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Gene: Tfap2a MGI:104671

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

transcription factor AP-2, alpha

Synonyms:

Tcfap2a, Ap2tf, AP2alpha, Ap-2 (a), Ap2, AP-2 alpha

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tfap2a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Tfap2a (2 diseases)
Human diseases predicted to be associated with Tfap2a (2659 diseases)

The table below shows human diseases associated to Tfap2a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Branchiooculofacial Syndrome		Premature graying of hair, Microphthalmia, Proximal placement of thumb, Sensorineural hearing imp...	OMIM:113620
Branchio-Oculo-Facial Syndrome		Premature graying of hair, Low-set, posteriorly rotated ears, Nasolacrimal duct obstruction, Colo...	ORPHA:1297

The table below shows human diseases predicted to be associated to Tfap2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormal finger morphology	OMIM:187390
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali...	OMIM:128980
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A9	Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:618219
Polydactyly, Postaxial, Type A10	Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:618498
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Polydactyly, Preaxial I	Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu...	OMIM:174400
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Con...	ORPHA:3232
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Deafness, X-Linked 2	Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm...	OMIM:304400
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly	ORPHA:1566
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Otosclerosis 7	Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A...	OMIM:611572
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Syndactyly Type 1	Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger...	ORPHA:93402
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct...	OMIM:607941
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma...	ORPHA:90646
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Non-Syndromic Genetic Deafness	Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor...	ORPHA:87884
Syndactyly-Polydactyly-Earlobe Syndrome	1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly...	OMIM:186350
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ...	OMIM:613854
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Conductive Deafness-Malformed External Ear Syndrome	Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm...	ORPHA:3216
Mesoaxial Hexadactyly And Cardiac Malformation	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:249670
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa...	OMIM:174200
Scalp Defects And Postaxial Polydactyly	Postaxial polydactyly type A	OMIM:181250
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se...	OMIM:617912
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Otosclerosis 11	Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im...	OMIM:620576
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Pulmonic Stenosis And Deafness	Pulmonic stenosis, Ventricular hypertrophy	OMIM:178651
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,...	OMIM:615779
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Pulmonic stenosis, Retinal arterial macroaneurysms	OMIM:614224
Duane-Radial Ray Syndrome	Microphthalmia, Pectoralis hypoplasia, Sandal gap, Sensorineural hearing impairment, Short humeru...	OMIM:607323
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ...	OMIM:617642
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
Supravalvular Aortic Stenosis	Pulmonic stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial ...	OMIM:185500
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyl...	ORPHA:952
Ectrodactyly-Polydactyly	Split foot, Split hand, Postaxial hand polydactyly	OMIM:225290
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Cyclopia, Iris coloboma, Microphthalmia, Aplasi...	ORPHA:3186
Verheij Syndrome	Cerebral atrophy, Short nose, Retrognathia, Optic nerve hypoplasia, Anteverted nares, Truncus art...	OMIM:615583
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Cyclopia, Butterfly vertebrae, Alobar holoprosencephaly, Optic nerve...	OMIM:301043
Distal Deletion 13Q	Optic atrophy, Abnormality of the hand, Abnormal metacarpal morphology, Anencephaly, Aplasia/Hypo...	ORPHA:1590
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short 5th finger, Postaxial hand polydactyly, Short thumb, Short 2nd toe	OMIM:176305
Stapes Ankylosis With Broad Thumbs And Toes	Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis	OMIM:184460
Symphalangism, Proximal, 1A	Conductive hearing impairment, Stapes ankylosis	OMIM:185800
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Trisomy 13	Bilateral single transverse palmar creases, Microphthalmia, Sensorineural hearing impairment, Kyp...	ORPHA:3378
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, A...	ORPHA:2839
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Blomstrand Lethal Chondrodysplasia	Broad clavicles, Short ribs, Short metacarpal, Mesomelia, Abnormal epiphysis morphology, Aplastic...	ORPHA:50945
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Supernumerary tooth, Abnormal antihelix morphology, Conductive hearing impairment, Micrognathia, ...	ORPHA:3145
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Pectus excavatum, Abnormal optic disc morphology, Broad t...	ORPHA:508498
Duane Retraction Syndrome	Irregular hyperpigmentation, Aniridia, Abnormal form of the vertebral bodies, Sensorineural heari...	ORPHA:233
Otosclerosis 8	Hearing impairment, Otosclerosis	OMIM:612096
Otosclerosis 3	Hearing impairment, Otosclerosis	OMIM:608244
Polydactyly, Postaxial, With Progressive Myopia	Postaxial hand polydactyly	OMIM:174310
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Iris coloboma, Abnormal vertebr...	OMIM:184705
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrioventricular canal defect, Pulmonary arterial hypertension, Aortic v...	ORPHA:210122
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Microphthalmia, Narrow chest, Craniosynostosis, Oligodactyly, Low-set ears, ...	OMIM:251230
Atresia Of External Auditory Canal And Conductive Deafness	Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari...	OMIM:108760
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Microcephaly, Absent...	OMIM:154400
Split-Foot Malformation With Mesoaxial Polydactyly	Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly	OMIM:616890
Genitopalatocardiac Syndrome	Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula...	OMIM:231060
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog...	OMIM:620294
8P23.1 Duplication Syndrome	Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot	ORPHA:251076
Charge Syndrome	Delayed puberty, Microphthalmia, Highly arched eyebrow, Abnormal pinna morphology, Microtia, Anos...	ORPHA:138
Fixed Subaortic Stenosis	Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu...	ORPHA:3092
Treacher Collins Syndrome 3	Microtia, Conductive hearing impairment, Micrognathia, Malar flattening, Hypoplasia of the zygoma...	OMIM:248390
Aortic Valve Disease 2	Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t...	OMIM:614823
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Malar flattening, Maxillozygomatic hypoplasia, Low-set, posteriorly rotated ears, Delayed eruptio...	ORPHA:2972
Oculoauricular Syndrome	Microphakia, Microphthalmia, Ocular anterior segment dysgenesis, Posterior synechiae of the anter...	OMIM:612109
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Corneal opacity, Aplasia/Hypoplasia of the phala...	ORPHA:3474
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Corneal opacity, Death in infancy, Broad thumb, Bilateral radial aplasia, Absent ...	OMIM:274000
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting...	ORPHA:83461
Pierre Robin Sequence With Facial And Digital Anomalies	Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,...	OMIM:311895
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Coloboma, Amelia, Low-set ears, Anterior encephalocele, Sc...	OMIM:601357
Bartsocas-Papas Syndrome 1	Ectropion, Microphthalmia, Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Able...	OMIM:263650
Charge Syndrome	Delayed puberty, Microphthalmia, Mixed hearing impairment, Sensorineural hearing impairment, Micr...	OMIM:214800
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Anophthalmia Plus Syndrome	Tessier cleft, Low-set, posteriorly rotated ears, Anophthalmia, Aplasia/Hypoplasia of the earlobe...	ORPHA:1104
Deafness, Autosomal Dominant 23	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:605192
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:488232
Cofs Syndrome	Optic atrophy, Microphthalmia, Cerebral calcification, Sensorineural hearing impairment, Aplasia/...	ORPHA:1466
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Familial Median Cleft Of The Upper And Lower Lips	Fusion of gums, Irregular dentition, Abnormal maxilla morphology, Cleft upper lip, Cleft lower li...	ORPHA:401942
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the dentition, Abnormality of the humerus, Camptodactyly of finger,...	ORPHA:1794
Thrombocytopenia-Absent Radius Syndrome	Sensorineural hearing impairment, Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, ...	ORPHA:3320
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Wide nose, Interrupted aortic arch, Scoliosis, Depressed nas...	ORPHA:1727
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip	OMIM:600776
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Synda...	ORPHA:294975
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
1Q21.1 Microdeletion Syndrome	Microphthalmia, Sensorineural hearing impairment, Broad thumb, Microcephaly, Abnormal cardiac sep...	ORPHA:250989
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu...	OMIM:614980
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Microcephaly, Mesomelia, Aplasia/Hypoplasia of the cerebellum, Low-set, posteriorly ...	ORPHA:1908
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Jawad Syndrome	Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy...	OMIM:251255
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma	OMIM:616428
Emanuel Syndrome	Kyphosis, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Recurrent sinusitis, Delayed er...	OMIM:609029
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge	ORPHA:2835
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Dy...	OMIM:620067
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Anteverted nares, Hypoplasia of the zygomatic bone, Wide nose	ORPHA:3074
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Microphthalmia, Hearing abnormality, Clinodactyly of the 5th finger, Cupp...	ORPHA:1352
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Sandal gap, Low-set ears, Camptodactyly of toe, Microcephaly, Hearing i...	ORPHA:251038
Partial Atrioventricular Septal Defect	Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ...	ORPHA:1330
Cat Eye Syndrome	Microphthalmia, Tricuspid atresia, Stenosis of the external auditory canal, Low-set ears, Total a...	OMIM:115470
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Inguinal hernia, Pulmo...	OMIM:208530
Emanuel Syndrome	Kyphoscoliosis, Severe hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Microcephaly...	ORPHA:96170
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S...	OMIM:611263
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, Low-set...	OMIM:607597
Stankiewicz-Isidor Syndrome	Retrognathia, Sacral dimple, 2-3 toe syndactyly, Truncus arteriosus, Low-set ears, Abnormal optic...	OMIM:617516
Neu-Laxova Syndrome 1	Rocker bottom foot, Microphthalmia, Radial deviation of finger, Ablepharon, Primary microcephaly,...	OMIM:256520
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e...	OMIM:610256
Neovascular Glaucoma	Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal...	ORPHA:94058
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Inguinal hernia, Coloboma, Abnormal pinna morphology, Absent tragus, Anosmia, Cho...	OMIM:603457
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Abnormality of the ear, Tricuspid valve prolapse, Abnormal vitreous humor morphology, Aniridia, I...	ORPHA:1101
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, 2-3 toe syndactyly, Narrow mouth, Cleft upper lip, Micrognathia, Cleft palate, Sho...	OMIM:239800
Holoprosencephaly	Microphthalmia, Abnormal form of the vertebral bodies, Highly arched eyebrow, Abnormal pinna morp...	ORPHA:2162
Neu-Laxova Syndrome 2	Rocker bottom foot, Lissencephaly, Finger syndactyly, Scoliosis, Low-set ears, Depressed nasal ri...	OMIM:616038
Focal Dermal Hypoplasia	Midclavicular aplasia, Microphthalmia, Mixed hearing impairment, Aniridia, Short ribs, Hypopigmen...	OMIM:305600
Trisomy 18	Bilateral single transverse palmar creases, Microphthalmia, Abnormal hip bone morphology, Anencep...	ORPHA:3380
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Upper eyelid coloboma, Telecanthus, Coloboma, Low...	OMIM:167730
Oculoauriculofrontonasal Syndrome	Upper eyelid coloboma, Wide nose, Encephalocele, Microtia, Bifid nasal tip, Scoliosis, Microcepha...	ORPHA:398156
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Nail-Patella Syndrome	Microphakia, Sensorineural hearing impairment, Pectus excavatum, Disproportionate prominence of t...	OMIM:161200
Treacher Collins Syndrome 2	Retrognathia, Microtia, Choanal atresia, Fusion of middle ear ossicles, Conductive hearing impair...	OMIM:613717
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormal palate morphology, Bilateral single transverse palmar creases, Clinodacty...	ORPHA:1786
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Cleft palate, Malar flattening, Short foot, Small hand	OMIM:300261
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Atrial septal defect, Microphthalmia, Sensorineural hearing impai...	ORPHA:290
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic...	OMIM:618845
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ...	OMIM:217095
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment	ORPHA:2669
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Hypoplasia of the fovea, Iris cyst	OMIM:620086
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Cousin Syndrome	Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl...	OMIM:260660
Heart And Brain Malformation Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Global brain atrophy, Interr...	OMIM:616920
Spondylo-Ocular Syndrome	Microphthalmia, Platyspondyly, Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the...	ORPHA:85194
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hypoplasia of the corpus callosum, Preaxial polydactyly, Anencephaly, Narrow chest, Hydrocephalus...	OMIM:616546
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:190
Fanconi Anemia, Complementation Group B	Hypoplasia of the corpus callosum, Abnormal vertebral morphology, Optic disc hypoplasia, Hydrocep...	OMIM:300514
Facial Clefting, Oblique, 1	Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Deep palmar crease	OMIM:600251
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P...	OMIM:616201
Jacobsen Syndrome	Microphthalmia, Pectus excavatum, Microcephaly, Nasolacrimal duct obstruction, Optic atrophy, Hyd...	OMIM:147791
Fraser Syndrome 1	Abnormal middle ear morphology, Upper eyelid coloboma, Abnormal pinna morphology, Corneal opacity...	OMIM:219000
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Pulmonic stenosis, Microcephaly, Left ventricular hypertrophy, Overl...	OMIM:619148
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Upper eyelid colobo...	OMIM:616462
Autosomal Dominant Keratitis	Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Colo...	ORPHA:2334
Heterotaxy, Visceral, 8, Autosomal	Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro...	OMIM:617205
Nephronophthisis 16	Situs inversus totalis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic valve stenosis, Pa...	OMIM:615382
Frontonasal Dysplasia 1	Microphthalmia, Radial deviation of finger, Bifid nasal tip, Hypoplastic frontal sinuses, Clinoda...	OMIM:136760
Frontofacionasal Dysplasia	Microphthalmia, Upper eyelid coloboma, Dimple on nasal tip, Bifid nasal tip, Hypoplasia of olfact...	ORPHA:1791
Velocardiofacial Syndrome	Abnormality of the hand, Right aortic arch with mirror image branching, Retrognathia, Hypoparathy...	OMIM:192430
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal	OMIM:221320
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Optic nerve hypoplasia, Abnormal fem...	ORPHA:536471
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Truncus arteriosus, Abnormal aortic morphology, Micro...	ORPHA:2516
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Mandibular prognathia, Gingival overgrowth, Narrow mout...	OMIM:614753
Multiple Synostoses Syndrome	Conductive hearing impairment	ORPHA:3237
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Familial Osteodysplasia, Anderson Type	Long nose, Aplasia/hypoplasia of the femur, Abnormal earlobe morphology, Abnormal form of the ver...	ORPHA:2769
Hereditary Pheochromocytoma-Paraganglioma	Episodic hyperhidrosis, Aniridia, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Retina...	ORPHA:29072
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ...	OMIM:176240
22Q11.2 Deletion Syndrome	Chronic otitis media, Microphthalmia, Corneal neovascularization, Abnormal aortic arch morphology...	ORPHA:567
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the pulmonary veins, Pulmonary...	OMIM:265380
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,...	OMIM:212093
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Macular coloboma, Interrupted aortic arch, Facial palsy, Retinal coloboma, Coarctation of aorta	OMIM:107550
Kniest Dysplasia	Bilateral ptosis, Enlarged metaphyses, Aplasia/Hypoplasia of the lens, Short long bone, Lattice r...	ORPHA:485
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Asymmetry of the ears, Highly arched eyebrow, Optic nerve hypoplasia, Pectus ...	ORPHA:508488
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hydrocephalus, Dandy-Walker malformation, ...	OMIM:220210
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p...	OMIM:119600
Pierre Robin Syndrome And Oligodactyly	Micrognathia, Cleft palate, Pierre-Robin sequence, Finger aplasia	OMIM:172880
Unilateral Ocular Duplication	Encephalocele, Midline facial cleft, Microcornea, Frontal bossing, Cleft palate, Dolichocephaly, ...	ORPHA:3374
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Narrow nasal ridge, Anteverted nares...	OMIM:236500
Mullegama-Klein-Martinez Syndrome	Polydactyly, Absent stapes, Clinodactyly of the 5th finger, Curly eyelashes, Sensorineural hearin...	OMIM:301022
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Radial deviation of finger, Abnormal pinna morphology, Corneal opacity, Wrist fle...	OMIM:268300
Baller-Gerold Syndrome	Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Optic nerve hypoplasia, Ol...	OMIM:218600
Microphthalmia, Syndromic 2	Microphthalmia, Sandal gap, Sensorineural hearing impairment, Bifid nasal tip, Pulmonic stenosis,...	OMIM:300166
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm...	ORPHA:83451
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for...	OMIM:620570
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Low-set ears, Umbilical hernia, Protruding ear, Hypoplasia of the zygomati...	ORPHA:1778
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Bilat...	ORPHA:199306
Gillespie Syndrome	Thin corpus callosum, Aniridia, Truncus arteriosus, Hypoplasia of the iris, Cerebellar hypoplasia	OMIM:206700
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Symphalangism affecting the phalanges of the hand, Hypogona...	ORPHA:2658
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Aniridia 1	Hypoplasia of the corpus callosum, Bilateral ptosis, Corneal neovascularization, Aniridia, Cornea...	OMIM:106210
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Branchial anomaly, Sensorineural hearing impairment, Conductiv...	ORPHA:1131
Proboscis Lateralis	Microphthalmia, Optic nerve hypoplasia, Corneal opacity, Abnormal eyebrow morphology, Nasolacrima...	ORPHA:141099
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Flat Face-Microstomia-Ear Anomaly Syndrome	Long nose, Abnormal tragus morphology, Low-set, posteriorly rotated ears, Abnormal antihelix morp...	ORPHA:1968
Walker-Warburg Syndrome	Microphthalmia, Corneal opacity, Abnormal optic nerve morphology, Microcephaly, Chorioretinal dys...	ORPHA:899
Donnai-Barrow Syndrome	Sensorineural hearing impairment, Umbilical hernia, Hypoplasia of the iris, Hearing impairment, S...	OMIM:222448
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Finger syndactyly, Hydrocephalus, Abnormal pinna morphology, Corn...	ORPHA:1647
Focal Dermal Hypoplasia	Microphthalmia, Short ribs, Corneal opacity, Hypoplastic pelvis, Split foot, Upper limb asymmetry...	ORPHA:2092
Microphthalmia With Limb Anomalies	Retrognathia, Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocati...	OMIM:206920
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe	OMIM:190680
Phaver Syndrome	Abnormal form of the vertebral bodies, Myelomeningocele, Broad thumb, Butterfly vertebrae, Pteryg...	ORPHA:2876
Microphthalmia/Coloboma 5	Orofacial cleft, Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly, Chori...	OMIM:611638
Chromosome Xq21 Deletion Syndrome	Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ...	OMIM:303110
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Microphthalmia, Narrow chest, Anophthalmia, Encephalocele, ...	OMIM:613885
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Aniridia, Telecanthus, Anteverted nares, Corneal opacity, Communicating h...	ORPHA:1064
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Thin corpus callosum, Retinal arterial tortuosity, Highly arched eyebrow, Cerebral calcification,...	OMIM:620371
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Macrotia, Carious teeth, Prominent nasa...	ORPHA:1110
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly	ORPHA:2091
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Small earlobe, Microtia,...	OMIM:216340
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology	ORPHA:2730
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A...	OMIM:618719
Short-Rib Thoracic Dysplasia 12	Anencephaly, Abnormal pinna morphology, Short long bone, Short ribs, Short finger, Inguinal herni...	OMIM:269860
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Jacobsen Syndrome	Ectropion, Abnormal form of the vertebral bodies, Death in infancy, Aortic valve stenosis, Hip di...	ORPHA:2308
Mesomelic Limb Shortening And Bowing	Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Micrognathia, Cleft palate, Meso...	OMIM:249710
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614262
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrocephalus, Microtia, Foot polydactyly, Short palm, Coarctation of aorta, Micr...	ORPHA:268249
Pelvis-Shoulder Dysplasia	Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho...	OMIM:169550
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse	ORPHA:2868
Microgastria-Limb Reduction Defect Syndrome	Atrial septal defect, Microphthalmia, Abnormal cortical gyration, Abnormal metacarpal morphology,...	ORPHA:2538
Fanconi Anemia	Abnormal carotid artery morphology, Irregular hyperpigmentation, Microphthalmia, Abnormal femur m...	ORPHA:84
Nager Syndrome	Low-set, posteriorly rotated ears, Microtia, Hearing impairment, Atresia of the external auditory...	ORPHA:245
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal...	ORPHA:860
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Wagro Syndrome	Aniridia, Mandibular prognathia, Corneal opacity, Low-set ears, Ptosis, Micrognathia, Downslanted...	OMIM:612469
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, P...	ORPHA:401935
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus	ORPHA:228190
Recombinant Chromosome 8 Syndrome	Cerebral atrophy, Secondary microcephaly, Clinodactyly of the 5th finger, Anteverted nares, Scoli...	OMIM:179613
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Sparse eyelashes, Bifid nose, Cataract, Craniu...	ORPHA:306542
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Retrognathia, Optic nerve hypoplasia, Corneal opacity, Pulmonic stenosis, Mic...	OMIM:301056
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Weill-Marchesani Syndrome	Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis	ORPHA:3449
Congenital Gerbode Defect	Congestive heart failure, Perimembranous ventricular septal defect, Vascular dilatation, Abnormal...	ORPHA:99095
Distal 17P13.1 Microdeletion Syndrome	Protruding ear, Retrognathia, Hypoplasia of the zygomatic bone, Prominent nasal bridge	ORPHA:319171
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect, Umbilical hernia	ORPHA:96129
Rhiny	Short nose, Anteverted nares	OMIM:180360
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Narrow mouth, Congenital hip dislocation, Deviation of finger, Malar ...	ORPHA:2412
Craniodiaphyseal Dysplasia	Stenosis of the external auditory canal, Conductive hearing impairment	ORPHA:1513
Exfoliation Syndrome	Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in...	OMIM:177650
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Pierre Robin Syndrome	Pierre-Robin sequence, Micrognathia, Cleft palate, Glossoptosis	OMIM:261800
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Midface retrusion, Hearing abnormality, Preauricular skin furrow, Hydrocephalus, Aplasia/Hypoplas...	ORPHA:1555
Cerebrooculonasal Syndrome	Tessier cleft, Widely spaced teeth, Solitary median maxillary central incisor, High palate, Posta...	ORPHA:66625
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Pulmonic stenosis, Mitral val...	OMIM:609008
Orofaciodigital Syndrome Ii	Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Hydrocephalus, Pos...	OMIM:252100
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor...	ORPHA:1457
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Toluene Embryopathy	Short nose, Low-set ears, Micrognathia, Protruding ear, Hypoplasia of the zygomatic bone	ORPHA:1920
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp...	ORPHA:3268
Cleidocranial Dysplasia 2	Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossif...	OMIM:620099
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613801
Carpenter Syndrome 1	Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Pulmonic stenosis...	OMIM:201000
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly	OMIM:615984
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormality of the orbital region, Abnormal form of the vertebral bodies, Osteolysis involving bo...	ORPHA:371428
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Meckel Syndrome	Microphthalmia, Anencephaly, Microcephaly, Optic atrophy, Abnormal chorioretinal morphology, Low-...	ORPHA:564
Noonan Syndrome 9	Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect	OMIM:616559
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow...	ORPHA:1106
Sweeney-Cox Syndrome	Upper eyelid coloboma, Microtia, Short distal phalanx of finger, Patent foramen ovale, Choanal at...	OMIM:617746
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear...	ORPHA:216694
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Cardiomyopathy, Familial Restrictive, 6	Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, Tricuspid regurgitation	OMIM:619433
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Highly arched eyebrow, Pectus excavatum, Overlapping toe, Long toe, Anteverted nares, Patent fora...	OMIM:618316
Mosaic Trisomy 9	Rocker bottom foot, Microphthalmia, Prominent occiput, Corneal opacity, Hip dislocation, Deep pal...	ORPHA:99776
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ...	ORPHA:3104
Sifrim-Hitz-Weiss Syndrome	Short palpebral fissure, Astigmatism, Fused cervical vertebrae, Short clavicles, Flat acetabular ...	OMIM:617159
Double Outlet Right Ventricle	Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aort...	ORPHA:3426
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Mandibular prognathia, Pectus excavatum, Abnormal digit morphology, Microce...	OMIM:268850
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos	OMIM:251750
3P25.3 Microdeletion Syndrome	Microphthalmia, Proximal placement of thumb, Sensorineural hearing impairment, Broad thumb, Pulmo...	ORPHA:435638
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r...	OMIM:609945
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Microcephaly, Short distal phalanx of finger, Ventricular se...	OMIM:601355
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Scimitar Syndrome	Mitral atresia, Left-to-right shunt, Abnormal heart morphology, Interrupted inferior vena cava wi...	ORPHA:185
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at...	OMIM:606217
Split-Hand/Foot Malformation 3	High palate, Narrow mouth, Split hand, Camptodactyly, Hypoplasia of the maxilla, Cleft palate, Mi...	OMIM:246560
Burn-Mckeown Syndrome	Short palpebral fissure, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Inguinal ...	OMIM:608572
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Retrognathia, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder...	OMIM:619110
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Blepharophimosis, Enlarged thorax, Low-set ears, Microcephaly, Camptodactyly of ...	ORPHA:2570
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Transposition of the great arteries, Atrioventricular canal defect, Absent radius, Proximal place...	OMIM:314390
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate...	ORPHA:284169
Aural Atresia, Congenital	Atresia of the external auditory canal, Conductive hearing impairment	OMIM:607842
Microphthalmia/Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Cleft ala nasi, Anophthalmia, Dandy-Walker mal...	OMIM:164180
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Bilateral ptosis, Highly arched eyebrow, Pectus carinatum, Microcephaly, Syndactyly, Enamel agene...	OMIM:614701
Meckel Syndrome, Type 1	Occipital encephalocele, Microphthalmia, Radial deviation of finger, Anencephaly, Microcephaly, S...	OMIM:249000
Ablepharon Macrostomia Syndrome	Absent eyebrow, Corneal erosion, Anteverted nares, Microtia, Absent eyelashes, Corneal opacity, O...	ORPHA:920
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Eruption failure, Pectus excavatum, Kyphosis, Aplasia of the 1st metacarpal, Primary microcephaly...	ORPHA:476126
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Long nose, Aplasia/hypoplasia of the femur, Broad dis...	ORPHA:2636
Occipital Horn Syndrome	Cerebral calcification, Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Kypho...	ORPHA:198
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Microphthalmia, Rhizomelia, Proxima...	ORPHA:93267
Cleidocranial Dysplasia	Chronic otitis media, Supernumerary tooth, Midface retrusion, Hearing abnormality, Spina bifida o...	ORPHA:1452
Treacher-Collins Syndrome	Retrognathia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Encephalocele,...	ORPHA:861
Wagr Syndrome	Hearing abnormality, Scoliosis, Microcephaly, Ptosis, Micrognathia, Cataract, Aplasia/Hypoplasia ...	ORPHA:893
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal...	OMIM:619657
Aniridia-Absent Patella Syndrome	Aniridia, Inguinal hernia, Aplasia/Hypoplasia of the patella, Ptosis, Cataract	ORPHA:1069
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Rhizomelia, Anophthalmia, Coloboma, 2-3 toe syndactyly, Microcornea, Long eyelash...	OMIM:615877
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left superior vena c...	ORPHA:3304
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Telecanthus, Abnormality of the vertebral column, Hydrocephalus, Sens...	OMIM:109120
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Nuclear pulverulent cataract, Sutural cataract, Highly arched eyebrow, Sensorineu...	OMIM:612474
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears...	ORPHA:2635
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Hypoplasia of the radius, Bilateral cleft palate, Finger aplasia, Atresia...	OMIM:614900
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Talipes equinovarus, Finger syndactyly, Anteverted nares, Abno...	ORPHA:1512
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of the nose, Retrognathia, Clinodactyly of the 5th finger, Low-set, posteriorly rotat...	ORPHA:1390
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis	OMIM:264140
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Microphthalmia, Syndromic 9	Right aortic arch with mirror image branching, Bilateral microphthalmos, Inguinal hernia, Anophth...	OMIM:601186
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve hypoplasia, Sensorineural hearing impairment, Microcephaly, Butterfly...	OMIM:206900
Polyvalvular Heart Disease Syndrome	Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi...	ORPHA:228410
Temtamy Preaxial Brachydactyly Syndrome	Radial deviation of finger, Clinodactyly of the 2nd finger, Microdontia, Abnormal spaced incisors...	ORPHA:363417
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th...	OMIM:142900
Melanocytic Nevus Syndrome, Congenital	Everted lower lip vermilion, Open mouth, Long philtrum, Prominence of the premaxilla, Deep philtrum	OMIM:137550
Microphthalmia/Coloboma 3	Cataract, Microphthalmia, Iris coloboma	OMIM:610092
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Developmental And Epileptic Encephalopathy 73	Cataract, Short nose, Narrow nasal bridge	OMIM:618379
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Lessel-Kreienkamp Syndrome	Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ...	OMIM:619149
Hydrolethalus	Retrognathia, Microphthalmia, Anencephaly, Low-set, posteriorly rotated ears, Anophthalmia, Hydro...	ORPHA:2189
Sarcosinemia	Pulmonic stenosis, Hypertrophic cardiomyopathy	ORPHA:3129
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Frank-Ter Haar Syndrome	Kyphoscoliosis, Developmental glaucoma, Broad clavicles, Short long bone, Pectus excavatum, Kypho...	OMIM:249420
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Corneal opacity, Myelomeningo...	ORPHA:2369
Noonan Syndrome 11	Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:618499
Heterotaxy, Visceral, 1, X-Linked	Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior ven...	OMIM:306955
Craniofacioskeletal Syndrome	Microtia, Hypoplastic frontal sinuses, Microcephaly, Choanal atresia, Short palm, Shield chest, D...	OMIM:300712
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona...	ORPHA:1354
Distal Deletion 6P	Corneal opacity, Ectopia pupillae, Abnormal epiphysis morphology, Anteverted nares, Scoliosis, Hy...	ORPHA:96125
Alg3-Cdg	Abnormality of the nose, Hypoplasia of the corpus callosum, Neural tube defect, Coarctation of th...	ORPHA:79321
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Diprosopus	Abnormality of the nose, Anencephaly, Abnormal pinna morphology, Abnormality of retinal pigmentat...	ORPHA:1681
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hypoplasia of the corpus callosum, Sacral dimple, Clinodactyly of the 5th finger, Hydrocephalus, ...	ORPHA:1516
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Slender long bone, Flared metaphysis, Hydrocephalus, Thin ribs, Death i...	OMIM:602361
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus	OMIM:604381
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Abnormal metacarpal morphology, Upper eyelid coloboma, Abnormal eyelid morphology, U...	ORPHA:2095
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Spina bifida occulta, Pulmonary artery stenosis, Atrial septal defect, V...	OMIM:301030
Van Den Ende-Gupta Syndrome	Dislocated radial head, Small earlobe, Short ribs, Femoral bowing, Pectus excavatum, Arachnodacty...	OMIM:600920
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Absent frontal sinuses, Narrow iliac wing, Osteolytic defects o...	OMIM:265800
Fatty Acyl-Coa Reductase 1 Deficiency	Juvenile cataract, Short nose, Depressed nasal bridge	ORPHA:438178
Hurler Syndrome	Bilateral ptosis, Corneal opacity, Cardiomyopathy, Flared iliac wing, Kyphosis, Biconcave vertebr...	OMIM:607014
Rhizomelic Syndrome	Pulmonic stenosis	OMIM:268250
Otosclerosis 10	Otosclerosis	OMIM:615589
Momo Syndrome	Bilateral microphthalmos, Wide nasal base, Delayed eruption of teeth, Femoral bowing, Short stern...	ORPHA:2563
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi...	ORPHA:93323
Dysostosis, Stanescu Type	Midface retrusion, Narrow nasal bridge, Abnormal dental enamel morphology, Hypoplasia of the maxi...	ORPHA:1798
Microphthalmia, Syndromic 12	Retrognathia, Microphthalmia, Anophthalmia, Hypoplastic left atrium, Micrognathia, Neonatal death...	OMIM:615524
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:610738
Isolated Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis	ORPHA:718
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Pectus carinatum, Short ...	ORPHA:192
Distal 22Q11.2 Microdeletion Syndrome	Abnormal earlobe morphology, Sandal gap, Highly arched eyebrow, Sensorineural hearing impairment,...	ORPHA:261330
Cohen Syndrome	Delayed puberty, Microphthalmia, Abnormal hip bone morphology, Sandal gap, Sensorineural hearing ...	ORPHA:193
Multiple Synostoses Syndrome 3	Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,...	OMIM:612961
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Premature graying of hair, Retrognathia, Decreased cirrculating antimullerian hormone circulation...	OMIM:300845
Supernumerary Nostril	Tessier cleft, Abnormality of ethmoid sinus	ORPHA:141096
Marshall Syndrome	Short nose, Sensorineural hearing impairment, Anteverted nares, Hypoplastic frontal sinuses, Hypo...	ORPHA:560
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Toe syndactyly	OMIM:183700
Encephalocraniocutaneous Lipomatosis	Cerebral atrophy, Tricuspid valve prolapse, Craniofacial hyperostosis, Interrupted aortic arch, C...	ORPHA:2396
Trisomy 1Q	Cerebellar hypoplasia, Wide nose, Anophthalmia, Hydrocephalus, Short thorax, Abnormality of the o...	ORPHA:261344
Kahrizi Syndrome	Cataract, Bulbous nose, Wide nasal bridge, Iris coloboma	OMIM:612713
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My...	ORPHA:93322
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Anosmia, Cataract, Depressed nasal bridge	OMIM:302950
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Macrotia, Large earlobe, Hypoplasia of the zygomatic bone, Malar prominence	ORPHA:2715
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Hypoplasia of the zygomatic bone, Anosmia	ORPHA:1295
Liberfarb Syndrome	Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,...	OMIM:618889
Phace Syndrome	Abnormal carotid artery morphology, Microphthalmia, Abnormality of the orbital region, Optic nerv...	ORPHA:42775
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery, Hearing abnormality, Aniridia	ORPHA:1065
Trisomy 12P	Short nose, Clinodactyly of the 5th finger, Abnormal antihelix morphology, Low-set ears, Aplasia/...	ORPHA:1699
Microtia With Meatal Atresia And Conductive Deafness	Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Weill-Marchesani Syndrome 3	Microspherophakia, Ectopia lentis, Shallow anterior chamber	OMIM:614819
Acromelic Frontonasal Dysostosis	Brachycephaly, Patellar hypoplasia, Encephalocele, Midline facial cleft, Optic nerve hypoplasia, ...	OMIM:603671
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertrophy, Patent ductus arter...	OMIM:615355
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Telecanthus, Anophthalmia, Anteverted nares, Prominent ear hel...	ORPHA:411986
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def...	ORPHA:261243
Bartsocas-Papas Syndrome	Short nose, Popliteal pterygium, Sparse or absent eyelashes, Finger syndactyly, Corneal opacity, ...	ORPHA:1234
Aase-Smith Syndrome	Abnormal hip bone morphology, Abnormal pinna morphology, Scoliosis, Slender finger, Camptodactyly...	ORPHA:916
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Hydrocephalus, Microcornea, Microtia, Aplasia/Hypoplasia involving...	ORPHA:3301
Sponastrime Dysplasia	Kyphoscoliosis, Short long bone, Congenital aphakia, Biconcave vertebral bodies, Aplasia of the n...	ORPHA:93357
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Proboscis, Encephalocele, Hydrocephalus, Anteverted nares, Dandy-Walker m...	OMIM:605627
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Norrie Disease	Delayed puberty, Microphthalmia, Aplasia/Hypoplasia of the lens, Sensorineural hearing impairment...	ORPHA:649
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Abnormal vertebral morphology, 11 pairs of ribs, Anophthalmia, Hydrocephalus, Hem...	ORPHA:77298
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cerebral atrophy, Microphthalmia, Retinal dystrophy, Retinal detachment, Microcephaly, Abnormalit...	OMIM:251270
Metachondromatosis	Pulmonic stenosis	OMIM:156250
Meckel Syndrome, Type 10	Occipital encephalocele, Sacral dimple, Anencephaly, Dandy-Walker malformation, Abnormal pinna mo...	OMIM:614175
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Short nose, Hydrocephalus, Abnormal dental enamel morphology, Low-set ears, Hypopla...	ORPHA:1812
Aarskog-Scott Syndrome	Orofacial cleft, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Si...	ORPHA:915
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Shallow orbits, Pulmonic stenosis...	OMIM:608328
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment	ORPHA:85179
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phala...	ORPHA:79345
Acro-Renal-Ocular Syndrome	Microphthalmia, Sandal gap, Sensorineural hearing impairment, Short humerus, Hypoplasia of the ul...	ORPHA:959
Long-Olsen-Distelmaier Syndrome	Death in childhood, Cardiomegaly, Cavum septum pellucidum, Microspherophakia, Optic nerve hypopla...	OMIM:620609
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Aortopulmonary window, Abnormal ascending ...	ORPHA:2299
Isolated Arrhinia	Midline defect of the nose, Microphthalmia, Microtia, Aplasia/Hypoplasia of the nasal septum, Abs...	ORPHA:1134
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker...	OMIM:108721
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Toriello-Carey Syndrome	Abnormal pinna morphology, Cardiomyopathy, Pulmonic stenosis, Microcephaly, Thickened helices, Ap...	ORPHA:3338
Adams-Oliver Syndrome 4	Umbilical hernia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:615297
Acrocardiofacial Syndrome	Atrial septal defect, Abnormal metacarpal morphology, Finger syndactyly, Truncus arteriosus, Spli...	ORPHA:2008
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Hydrocephalus, Microtia, Mandibular prognathia, Low-set ears, Microretrognathia, Hypo...	OMIM:613603
Cardiac Diverticulum	Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm...	ORPHA:1686
Chromosome 22Q11.2 Deletion Syndrome, Distal	Highly arched eyebrow, Truncus arteriosus, Malar flattening, Underdeveloped nasal alae	OMIM:611867
Alagille Syndrome 2	Hypertension, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary ...	OMIM:610205
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder m...	ORPHA:1350
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Ptosis, Abnormal heart ...	ORPHA:1067
Otodental Syndrome	Microphthalmia, Taurodontia, Delayed eruption of teeth, Anteverted nares, Microcornea, Abnormal d...	ORPHA:2791
Isolated Split Hand-Split Foot Malformation	Aniridia, Finger syndactyly, Sensorineural hearing impairment, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Megalocornea-Intellectual Disability Syndrome	Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Protruding ear, Sensorineural he...	ORPHA:2479
Jackson-Weiss Syndrome	Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, ...	ORPHA:1540
Robinow Syndrome	Pulmonary valve atresia, Tricuspid atresia, Marked delay in eruption of permanent teeth, Persiste...	ORPHA:97360
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Retinal dystr...	ORPHA:139471
Middle Ear Neuroendocrine Tumor	Unilateral conductive hearing impairment, Sensorineural hearing impairment, Abnormal auditory can...	ORPHA:100084
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Radial deviation of finger, Sandal gap, Highly arched eyebrow, Pectus excavatum, Mi...	OMIM:270450
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p...	OMIM:156510
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Genu valgum, Retinal detachment, Prim...	OMIM:249310
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Ear-Patella-Short Stature Syndrome	Retrognathia, Clinodactyly of the 5th finger, Slender long bone, Microtia, third degree, Low-set ...	ORPHA:2554
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Neonatal Adrenoleukodystrophy	Optic atrophy, Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Ant...	ORPHA:44
Momo Syndrome	Delayed eruption of teeth, Retinal coloboma, Short sternum, Downslanted palpebral fissures, Under...	OMIM:157980
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Sensorineural hearing impairment, Pectus excavatum, Umbilical hernia, Ocular ...	OMIM:612582
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum...	ORPHA:1570
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Conductive hearing impairment, Dystonia, Choreoathetosis	OMIM:618497
Micro Syndrome	Delayed puberty, Microphthalmia, Kyphosis, Microcephaly, Optic atrophy, Low-set, posteriorly rota...	ORPHA:2510
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Bilateral single transverse palmar creases, Tessier cleft, Microphthalmia, Brachycephaly, Scolios...	ORPHA:1236
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg...	OMIM:609052
3C Syndrome	Abnormal hip bone morphology, Kyphosis, Death in infancy, Pulmonic stenosis, Abnormal mitral valv...	ORPHA:7
Oculoectodermal Syndrome	Bladder exstrophy, Astigmatism, Hyperpigmented streaks, Hyperpigmentation of the skin, Giant cell...	OMIM:600268
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Fryns Syndrome	Microphthalmia, Aganglionic megacolon, Clinodactyly of the 5th finger, Abnormal aortic arch morph...	ORPHA:2059
Treacher Collins Syndrome 4	Microcephaly, Conductive hearing impairment, Micrognathia, Downslanted palpebral fissures, Choana...	OMIM:618939
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Anteverted nares, Depressed nasal ridge	ORPHA:1355
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Fraser Syndrome	Microphthalmia, Abnormal pinna morphology, Microtia, Myelomeningocele, Death in infancy, Microcep...	ORPHA:2052
Branchial Arch Syndrome, X-Linked	Pulmonic stenosis	OMIM:301950
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attached earlobe, Upslanted palpebral...	OMIM:616108
Frontonasal Dysplasia 3	Tessier cleft, Brachycephaly, Microphthalmia, Low-set ears, Cleft palate, Posteriorly rotated ears	OMIM:613456
Nivelon-Nivelon-Mabille Syndrome	Thin corpus callosum, Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Cerebellar ve...	OMIM:600092
Microtia, Hearing Impairment, And Cleft Palate	Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l...	OMIM:612290
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Highly arched eyebrow, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Hypopla...	OMIM:620157
Maxillonasal Dysplasia	Mandibular prognathia, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Aplasia...	ORPHA:1248
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Cyclopia, Low-set, posteriorly rotated ears, Abnormal cranial nerve morph...	ORPHA:990
Van Maldergem Syndrome 2	Sensorineural hearing impairment, Microtia, Subcortical band heterotopia, Clinodactyly, Short 4th...	OMIM:615546
Fanconi Anemia, Complementation Group D2	Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Hydrocephalus, Low-set ears, Hyp...	OMIM:227646
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypoplasia of the corpus callosum, Retrognathia, Microphthalmia, Sandal gap, Joint contracture of...	OMIM:618914
Galloway-Mowat Syndrome 1	Microphthalmia, Narrow nasal ridge, Hypopigmentation of the skin, Microcephaly, Optic atrophy, Da...	OMIM:251300
Short Syndrome	Radial deviation of finger, Astigmatism, Inguinal hernia, Slender long bone, Delayed eruption of ...	OMIM:269880
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Prolidase Deficiency	Abnormality of the middle ear, Depressed nasal ridge, Hearing impairment, Carious teeth, Microgna...	ORPHA:742
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Protruding ear, Wide nasal bridge, Hypoplasia of the maxilla	OMIM:618302
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart	OMIM:241550
Recon Progeroid Syndrome	Thin vermilion border, Proximal placement of thumb, Dental crowding, Arachnodactyly, Smooth philt...	OMIM:620370
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares	ORPHA:2015
Grange Syndrome	Aortic regurgitation, Hypertension, Arterial stenosis, Patent ductus arteriosus, Ventricular sept...	ORPHA:79094
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum...	ORPHA:2345
Developmental Delay, Language Impairment, And Ocular Abnormalities	Pulmonic stenosis, Facial telangiectasia, Myelomeningocele, Inguinal hernia	OMIM:620141
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe...	OMIM:108900
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Aorto-Ventricular Tunnel	Congestive heart failure, Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hype...	ORPHA:3400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Midface retrusion, Abnormal dental enamel morphology, Macrotia, Carious teeth, Micrognathia, Prot...	ORPHA:3253
D-Lactic Aciduria With Gout	Microcephaly, Downslanted palpebral fissures, Aniridia, Inguinal hernia	OMIM:245450
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the corpus callosum, Microphthalmia, Linear hyperpigmentation, Hydrocephalus, Dandy...	OMIM:613001
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Bilateral ptosis, Microtia, Microcephaly, Short 5th finger, Long toe, Hydroce...	ORPHA:163979
Aniridia And Absent Patella	Cataract, Aplasia/Hypoplasia of the patella, Aniridia	OMIM:106220
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Tarsal synostosis, Short thorax, Abnormal dental enamel morphology,...	ORPHA:85199
Acrofrontofacionasal Dysostosis	Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Dimple on nasal tip, Micromelia, B...	ORPHA:1784
Pfeiffer Syndrome	Hypoplasia of the zygomatic bone, Wide nasal bridge, Mandibular prognathia	ORPHA:710
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Microphthalmia, Hydrocephalus, Microtia, Low-set ears, Depressed nasal tip, B...	OMIM:614083
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Ventricular septal defect, Spina bifida, Gastroschisis, Hypoplastic left heart	ORPHA:2476
Distal Triplication 15Q	Retrognathia, Hypoplastic aortic arch, Telecanthus, Hydrocephalus, Dandy-Walker malformation, Cor...	ORPHA:314588
Chilton-Okur-Chung Neurodevelopmental Syndrome	Bilateral ptosis, Asymmetry of the thorax, Highly arched eyebrow, Sensorineural hearing impairmen...	OMIM:619841
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Antley-Bixler Syndrome	Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Hypoplasia of t...	ORPHA:83
Helsmoortel-Van Der Aa Syndrome	Bilateral ptosis, Sandal gap, Prominent fingertip pads, Hyperlordosis, Pectus excavatum, Short lo...	OMIM:615873
Cardiofaciocutaneous Syndrome 3	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:615279
Cleft Palate-Lateral Synechia Syndrome	Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate	ORPHA:2016
Tetramelic Monodactyly	Split foot, Foot monodactyly, Split hand, Hand monodactyly	OMIM:187510
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Oculopharyngodistal Myopathy 3	Sensorineural hearing impairment, Conductive hearing impairment, Tremor	OMIM:619473
Neurofibromatosis-Noonan Syndrome	Pulmonic stenosis, Hypertrophic cardiomyopathy	ORPHA:638
Burn-Mckeown Syndrome	Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge	ORPHA:1200
Short Syndrome	Abnormal anterior chamber morphology, Abnormal zygomatic bone morphology, Inguinal hernia, Teleca...	ORPHA:3163
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda...	ORPHA:246
Van Maldergem Syndrome 1	Sensorineural hearing impairment, Microtia, Subcortical band heterotopia, Clinodactyly, Short 4th...	OMIM:601390
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Stevenson-Carey Syndrome	Hypoplasia of the corpus callosum, Atrial septal defect, Microphthalmia, Anteverted nares, Promin...	OMIM:611961
Ectopia Lentis 1, Isolated, Autosomal Dominant	Aortic root aneurysm, Retinal detachment, Microspherophakia, Pectus carinatum, Scoliosis, Pectus ...	OMIM:129600
Teebi Hypertelorism Syndrome 2	Short nose, Clinodactyly of the 5th finger, Upper eyelid coloboma, Delayed eruption of teeth, Wid...	OMIM:619736
Feingold Syndrome 1	Microcephaly, Tricuspid atresia, Anteverted nares, Depressed nasal tip, 4-5 toe syndactyly, Heari...	OMIM:164280
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Craniofacial Microsomia 2	Submucous cleft palate, Micrognathia, Bifid uvula, Dermal sinus tract	OMIM:620444
Ciliary Dyskinesia, Primary, 33	Conductive hearing impairment, Recurrent otitis media	OMIM:616726
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal...	ORPHA:2248
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Constricting Bands, Congenital	Tessier cleft, Encephalocele, Cleft upper lip, Hand polydactyly, Cleft palate, Syndactyly, Talipe...	OMIM:217100
Hartsfield Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Encephalocele, Non-midline cleft of the upper ...	ORPHA:2117
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Spina bifida occul...	OMIM:617877
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop...	ORPHA:79113
Stickler Syndrome Type 1	Retinal detachment, Short nose, Abnormal vitreous humor morphology, Cataract	ORPHA:90653
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Chylopericardium, Tricuspid regurgitation, Pulmonary arterial hypertens...	ORPHA:2414
Cleft Palate, Isolated	Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate	OMIM:119540
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Pectus carinatum, Aortic valve stenosis, Microcephaly, Sy...	OMIM:618164
Cockayne Syndrome Type 1	Optic atrophy, Hypermelanotic macule, Hypoplasia of the primary teeth, Male hypogonadism, Anophth...	ORPHA:90321
Contractures-Developmental Delay-Pierre Robin Syndrome	Abnormal finger morphology, Microtia, Wrist flexion contracture, Arachnodactyly, Lop ear, Overlap...	ORPHA:436003
Mandibulofacial Dysostosis With Alopecia	Protruding ear, Stenosis of the external auditory canal, Microtia, Low-set ears, Hypoplasia of th...	OMIM:616367
Anencephaly 2	Short palpebral fissure, Bifid nose, Anencephaly, Anophthalmia	OMIM:619452
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic...	ORPHA:40366
Fanconi Anemia, Complementation Group U	Hypoplasia of the radius, Unilateral facial palsy, Absent scaphoid, Aplasia of the 1st metacarpal...	OMIM:617247
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Cockayne Syndrome B	Square pelvis bone, Microphthalmia, Hypoplastic iliac wing, Sensorineural hearing impairment, Abn...	OMIM:133540
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micrognathia, Cleft palate, Preaxial foot...	OMIM:614120
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short 4th metacarpal, Diabetes insipidus, Hearing imp...	ORPHA:264200
Cockayne Syndrome Type 2	Hypermelanotic macule, Hypoplasia of the primary teeth, Subcortical white matter calcifications, ...	ORPHA:90322
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Low-set ears, ...	OMIM:617478
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Forearm undergrowth, Bowed forearm bones, Absent thumb, Absent radius	OMIM:602200
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac...	OMIM:617927
Scalp-Ear-Nipple Syndrome	Palpebral edema, Small earlobe, Microtia, Underdeveloped tragus, Broad thumb, Anteverted nares, D...	OMIM:181270
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Patchy atrophy of the retinal pigment epithelium, Juvenile cataract, Attached earlobe, Low-set ea...	ORPHA:436245
Craniofrontonasal Dysplasia	Hypoplasia of the corpus callosum, Abnormal clavicle morphology, Midline defect of the nose, Clin...	ORPHA:1520
Tarp Syndrome	Rocker bottom foot, Microtia, Pectus excavatum, Clinodactyly, Optic atrophy, Hypoplasia of the ra...	OMIM:311900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Barber-Say Syndrome	Ectropion, Sparse or absent eyelashes, Telecanthus, Delayed eruption of teeth, Anteverted nares, ...	ORPHA:1231
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Retinal dystrophy, Microcornea, Remnants of the hyaloid vas...	ORPHA:231736
Aniridia 3	Cataract, Aniridia	OMIM:617142
Genitourinary And/Or Brain Malformation Syndrome	Kyphoscoliosis, Astigmatism, Low-set ears, Omphalocele, Micrognathia, Acrania, Holoprosencephaly,...	OMIM:618820
Digeorge Syndrome	Right aortic arch with mirror image branching, Microcephaly, Recurrent sinusitis, Abnormal thymus...	OMIM:188400
De Barsy Syndrome	Kyphoscoliosis, Progressive microcephaly, Corneal opacity, Pectus excavatum, Umbilical hernia, Ad...	ORPHA:2962
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Developmental glaucoma, Aniridia, Telecanthus	OMIM:206750
Metatropic Dysplasia	Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Fl...	OMIM:156530
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Ab...	ORPHA:96334
Waardenburg Syndrome Type 1	Premature graying of hair, White forelock, White eyelashes, Congenital sensorineural hearing impa...	ORPHA:894
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Scoliosis, Synostosis of carpal bones, Hearing imp...	ORPHA:2307
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Narrow chest, Telecanthus, Short metacarpal, Abnormal pelvic girdle...	ORPHA:1422
Meckel Syndrome, Type 4	Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro...	OMIM:611134
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar...	OMIM:613759
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal hip bone morphology...	ORPHA:2631
Cenani-Lenz Syndrome	Ectropion, Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of th...	ORPHA:3258
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Bicuspid aortic valve, Decreased nerve conduction velocity, Wide nose, Aortic aneurysm, Sandal ga...	ORPHA:477817
Joubert Syndrome 18	Retrognathia, Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydac...	OMIM:614815
Dubowitz Syndrome	Microphthalmia, Microcephaly, Syndactyly, Sacral dimple, Inguinal hernia, Hypoplasia of the iris,...	OMIM:223370
Frontofacionasal Dysplasia	Short nose, Midline defect of the nose, Microphthalmia, S-shaped palpebral fissures, Telecanthus,...	OMIM:229400
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon...	OMIM:108720
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Abnormal pinna morphology, Low-set ears, Abnormal external nose morp...	ORPHA:556955
Feingold Syndrome Type 1	Short palpebral fissure, Tricuspid atresia, Clinodactyly of the 5th finger, Interrupted aortic ar...	ORPHA:391641
Leber Congenital Amaurosis	Encephalocele, Keratoconus, Abnormal optic disc morphology, Hearing impairment, Abnormality of re...	ORPHA:65
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ...	OMIM:170390
Temple-Baraitser Syndrome	Pulmonic stenosis, Atrial septal defect	OMIM:611816
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Schinzel-Giedion Syndrome	Kyphoscoliosis, Retrognathia, Tibial bowing, Shallow orbits, Abnormal heart morphology, Umbilical...	ORPHA:798
Pentalogy Of Cantrell	Abnormal tibia morphology, Anencephaly, Encephalocele, Hydrocephalus, Abnormal sternum morphology...	ORPHA:1335
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ...	ORPHA:50815
Maxillonasal Dysplasia, Binder Type	Short nose, Depressed nasal bridge, Short columella	OMIM:155050
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip, Midface retrusion	ORPHA:2776
Whistling Face Syndrome, Recessive Form	Kyphoscoliosis, Short palpebral fissure, Talipes equinovarus, Inguinal hernia, Shoulder flexion c...	OMIM:277720
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Highly arched eyebrow, Long eyelashes, Long palpebral fissure, Simplified gyral pa...	ORPHA:411493
Vitamin K Antagonist Embryofetopathy	Optic atrophy, Short nose, Anteverted nares, Choanal atresia, Aplasia/Hypoplasia affecting the ey...	ORPHA:1914
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ocular anterior segment dysgenesis, Nasofrontal encephalocele, Small pituitary gland, Hydrocephal...	OMIM:614195
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Microtia, Scoliosis, Short f...	OMIM:248910
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Cerebral calcification, Abnormal pinna morphology, Umbilic...	ORPHA:2710
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:120433
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Microspherophakia, Scoliosis, Broad metacarpals, Broad metatarsal, C...	OMIM:277600
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Craniofacial hyperost...	ORPHA:2790
Branchiooculofacial Syndrome	Premature graying of hair, Microphthalmia, Proximal placement of thumb, Sensorineural hearing imp...	OMIM:113620
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Ectopia lentis	ORPHA:833
Late-Onset Retinal Degeneration	Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina...	ORPHA:67042
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Patent ductus ...	ORPHA:392
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorio...	ORPHA:1473
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin corpus callosum, Highly arched eyebrow, Narrow nasal ridge, Short distal phalanx of finger, ...	OMIM:619293
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Prominent occiput, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmen...	ORPHA:1797
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,...	ORPHA:65759
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Polysyndactyly of hallux, Preaxial foot polydactyly	OMIM:235750
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Orofaciodigital Syndrome Iv	Short finger, Short tibia, High palate, Foot polydactyly, Postaxial polydactyly, Micrognathia, Cl...	OMIM:258860
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co...	ORPHA:2484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Oculocutaneous Albinism Type 6	Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Abnormal iris pigmentation...	ORPHA:370097
Norrie Disease	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit...	OMIM:310600
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Microtia, Broad palm, Clinodactyly, Aganglionic megacolon, Pa...	OMIM:190685
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left...	OMIM:600001
Marfan Syndrome	Limited elbow movement, Retrognathia, Spondylolisthesis, Pectus carinatum, Aortic tortuosity, Pec...	ORPHA:558
Seckel Syndrome 4	Retrognathia, 11 pairs of ribs, Steep acetabular roof, Low-set ears, Microcephaly, Underdeveloped...	OMIM:613676
Zellweger Syndrome	Optic atrophy, Abnormal chorioretinal morphology, Epiphyseal stippling, Polymicrogyria, Sensorine...	ORPHA:912
Boomerang Dysplasia	Absent radius, Fibular aplasia, Neonatal death, Hypoplastic iliac body	OMIM:112310
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Prominent occiput, Short ribs, Low...	OMIM:617895
Acrodysostosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Hypogonadism,...	ORPHA:950
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal aortic arch morphology, Aplasia/Hypoplasia of the inner ear, Ingu...	ORPHA:2306
Toriello-Lacassie-Droste Syndrome	Short nose, Short palpebral fissure, Aganglionic megacolon, Telecanthus, Anteverted nares, Genera...	ORPHA:3339
Vacterl With Hydrocephalus	Hypoplasia of the radius, Microphthalmia, Aqueductal stenosis, Retrognathia, Inguinal hernia, Ano...	ORPHA:3412
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot, Inguinal hernia	OMIM:615542
Achondrogenesis, Type Ia	Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Hypoplastic isc...	OMIM:200600
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Partial anomalous pulmonary venous return, Wolff-Parkinson-White syndrome, ...	OMIM:619343
Vacterl/Vater Association	Occipital encephalocele, Anencephaly, Low-set, posteriorly rotated ears, Abnormal intervertebral ...	ORPHA:887
Hypermethioninemia Due To Adenosine Kinase Deficiency	Pulmonic stenosis, Coarctation of aorta, Secundum atrial septal defect	OMIM:614300
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Microphthalmia, Abnormal earlobe morphology, Corneal opacity, Microcephaly, Mitral ...	ORPHA:2556
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Mosaic Trisomy 14	Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Narrow chest, Micr...	ORPHA:1703
Holoprosencephaly 9	Microphthalmia, Thin corpus callosum, Optic nerve hypoplasia, Underdeveloped tragus, Microcephaly...	OMIM:610829
Eng-Strom Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:1937
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Tapered finger, Hypoplasia of the maxilla, Short palm, Camptodactyly of finger, Clin...	ORPHA:85279
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, A...	ORPHA:1040
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Fadd-Related Immunodeficiency	Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Cartilage-Hair Hypoplasia	Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, P...	ORPHA:175
Xq21 Microdeletion Syndrome	Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorineural hearing im...	ORPHA:1435
Vater/Vacterl Association	Hypoplasia of the radius, Preaxial polydactyly, Occipital encephalocele, Triphalangeal thumb, Pat...	OMIM:192350
20P12.3 Microdeletion Syndrome	Microtia, Full cheeks, Hypoplasia of the maxilla, Malar flattening, Thickened helices, Wide nasal...	ORPHA:261295
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebral atrophy, Hammertoe, Peripheral axonal neuropathy, Scoliosis, Microcephaly, Hearing impai...	OMIM:619090
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
Microhydranencephaly	Hydranencephaly, Microcephaly, Macrotia, Prominent nasal bridge, Agenesis of corpus callosum, Pac...	OMIM:605013
Axenfeld-Rieger Syndrome	Abnormal anterior chamber morphology, Telecanthus, Abnormality of the hypothalamus-pituitary axis...	ORPHA:782
Ivic Syndrome	Limited elbow movement, Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Scoliosis...	OMIM:147750
Non-Distal Duplication 10Q	Aplasia/Hypoplasia affecting the eye, Short nose, Convex nasal ridge, Depressed nasal bridge	ORPHA:1695
Arthrogryposis, Distal, Type 5	Protruding ear, Astigmatism, Keratoglobus, Blepharophimosis, Keratoconus, Scoliosis, Absent phala...	OMIM:108145
Radial-Renal Syndrome	Absent radius, Abnormal pinna morphology, Absent thumb	OMIM:179280
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Inguinal hernia, Pulmonic stenosis, Umbilical hernia, A...	OMIM:618205
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Sensorineural hearing impairment, Talipes equinovarus, Anteverted nares, Poly...	OMIM:214100
Familial Expansile Osteolysis	Conductive hearing impairment	OMIM:174810
Holoprosencephaly 1	Cyclopia, Microphthalmia, Proboscis, Alobar holoprosencephaly, Diabetes insipidus, Adrenal hypopl...	OMIM:236100
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Pulmonic stenosis, Hydrocephalus, Hypertrophic cardiomyopathy	ORPHA:2701
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelia, Inguinal hernia, Epiphyseal stippling, Optic nerve hypoplasia, Anteverted nares, Scol...	OMIM:222765
Waardenburg Syndrome, Type 1	Premature graying of hair, Myelomeningocele, Hypoplastic iris stroma, White forelock, White eyela...	OMIM:193500
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Abnormal optic nerve morphology, Retinopathy, Microcephaly, Chorioretinal dysplas...	ORPHA:2526
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Corneal opacity	ORPHA:2370
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares	ORPHA:1450
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Delayed eruption of permanent teeth, Abnormality of the palmar creases, Retinal detachment, Mandi...	ORPHA:521445
Developmental And Epileptic Encephalopathy 63	Conductive hearing impairment, EEG with generalized epileptiform discharges	OMIM:617976
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus	OMIM:312190
Juberg-Hayward Syndrome	Hypoplasia of the radius, Orofacial cleft, Abnormality of the wrist, Abnormal vertebral morpholog...	ORPHA:2319
Frontoocular Syndrome	Pulmonic stenosis, Atrial septal defect	OMIM:605321
Bardet-Biedl Syndrome 4	Polydactyly, Syndactyly, Brachydactyly	OMIM:615982
Symphalangism With Multiple Anomalies Of Hands And Feet	Conductive hearing impairment	ORPHA:3246
17Q21.31 Microduplication Syndrome	Anteverted nares, Short nose	ORPHA:217340
Fanconi Anemia, Complementation Group C	Microphthalmia, Hyperpigmentation of the skin, Hypergonadotropic hypogonadism, Cafe-au-lait spot,...	OMIM:227645
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Klippel-Feil Syndrome 2, Autosomal Recessive	Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impairment	OMIM:214300
Kagami-Ogata Syndrome	Inguinal hernia, Pulmonary arterial hypertension, Omphalocele, Pulmonic stenosis, Patent ductus a...	OMIM:608149
Neural Tube Defects, Susceptibility To	Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints...	OMIM:182940
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, Optic nerve hypoplasia, Pectus carinatum, Pectus excavatum, Pulmonic steno...	OMIM:617506
Keipert Syndrome	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Exaggerated cupid's...	ORPHA:2662
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate	OMIM:179400
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Prominent fingertip pads, Glossoptosis, Microdontia, Eclabio...	OMIM:602535
Cohen Syndrome	Delayed puberty, Bone spicule pigmentation of the retina, Short metacarpal, Microcephaly, Mitral ...	OMIM:216550
Craniofacial-Deafness-Hand Syndrome	Short nose, Aplasia/Hypoplasia involving the nose, Abnormality of the wrist, Sensorineural hearin...	ORPHA:1529
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Kyphosis, Pulmonic stenosis,...	OMIM:618223
Atrial Septal Defect 1	Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ...	OMIM:108800
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Brachycephaly, Tarsal syn...	ORPHA:2633
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Bulbous nose, Cupped ear	ORPHA:93945
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Hig...	OMIM:180849
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Restrictive Dermopathy 1	Rocker bottom foot, Kyphoscoliosis, Narrow nasal ridge, Temporomandibular joint ankylosis, Overtu...	OMIM:275210
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Fraser Syndrome 3	Stillbirth, Wide nose, Hydrocephalus, Low-set ears, Cryptophthalmos, Micrognathia, Short toe, Sim...	OMIM:617667
Linear Skin Defects With Multiple Congenital Anomalies 2	Hypoplasia of the corpus callosum, Short nose, Microphthalmia, Sandal gap, Highly arched eyebrow,...	OMIM:300887
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max...	ORPHA:397973
Oculodentodigital Dysplasia, Autosomal Recessive	Long nose, 2-4 toe cutaneous syndactyly, Microphthalmia, Hypoplasia of the primary teeth, Persist...	OMIM:257850
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
Femoral-Facial Syndrome	Microtia, Abnormal sacrum morphology, Abnormal fibula morphology, Inguinal hernia, Scoliosis, Apl...	ORPHA:1988
Crouzon Syndrome	Optic atrophy, Hypopigmented skin patches, Cerebellar hypoplasia, Hydrocephalus, Choanal atresia,...	ORPHA:207
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Skraban-Deardorff Syndrome	Hypoplasia of the corpus callosum, Hyperplasia of the maxilla, Recurrent otitis media, Anteverted...	OMIM:617616
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Abnormal form of the vertebral bodies, Sensorineural hearing impairm...	ORPHA:818
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal seventh cranial physiology, Lower cranial nerve dysfunction, Abnormal cranial nerve phys...	ORPHA:90117
3Mc Syndrome 2	Limited elbow movement, Caudal appendage, High palate, Cleft upper lip, Downturned corners of mou...	OMIM:265050
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Symphalangism affec...	ORPHA:628
Branchiootic Syndrome	Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, H...	ORPHA:52429
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Decreased nerve conduction velocity, Clinodactyly of the 5th finger, Sanda...	OMIM:616652
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus, Syndactyly	OMIM:215850
Craniofacial Microsomia 1	Occipital encephalocele, Microphthalmia, Upper eyelid coloboma, Sensorineural hearing impairment,...	OMIM:164210
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Pulmonic stenosis, Atrial septal defect	OMIM:619239
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ...	ORPHA:3236
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Low-set ears, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, ...	OMIM:264470
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Anophthalmia, Bifid nasal tip, Omphalocele, Cryptophth...	OMIM:248450
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:616722
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ...	OMIM:212550
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Microphthalmia, Astigmatism, Decreased response to growth hormone stimu...	OMIM:609053
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Atresia of the external auditory canal, Conductive hearing impairment	OMIM:133705
Primary Ciliary Dyskinesia	Chronic otitis media, Situs inversus totalis, Transposition of the great arteries, Recurrent otit...	ORPHA:244
Ring Chromosome 14 Syndrome	Anteverted nares, Low-set ears, Depressed nasal ridge, Almond-shaped palpebral fissure, Microceph...	OMIM:616606
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aorti...	OMIM:615415
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Triple A Syndrome	Optic atrophy, Anterior hypopituitarism, Sensorineural hearing impairment, Abnormality of the hyp...	ORPHA:869
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Encephalocele	ORPHA:217
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Coenzyme Q10 Deficiency, Primary, 7	Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy...	OMIM:616276
Oculofaciocardiodental Syndrome	Microphthalmia, Highly arched eyebrow, Sensorineural hearing impairment, Bifid nasal tip, Flexion...	ORPHA:2712
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Mandibular prognathia, Low-set ears, Abnormal nasal base norpholog...	ORPHA:1919
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Dislocated radial head, Sensorineural hearing impairment, Highly arc...	OMIM:122470
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Short ribs, Micromeli...	OMIM:215045
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Conductive hearing impairment, Recurrent otitis media, Low-set ears	OMIM:616910
Leber Congenital Amaurosis 2	Cerebellar vermis hypoplasia, Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of reti...	OMIM:204100
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Pulmonic stenosis, Abnormal pulmonary valve morphology	ORPHA:137634
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Lacrimoauriculodentodigital Syndrome 1	Recurrent corneal erosions, Mixed hearing impairment, Hypoplasia of the lacrimal punctum, Limbal ...	OMIM:149730
3Mc Syndrome 3	Tessier cleft, Preaxial polydactyly, Cleft upper lip, Cleft palate, Radioulnar synostosis, Clinod...	OMIM:248340
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ...	OMIM:618300
Hemifacial Microsomia With Radial Defects	Atresia of the external auditory canal, Conductive hearing impairment, Microtia	OMIM:141400
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Microphthalmia, Short long bone, Retinal atrophy, Short metacarpal,...	ORPHA:85167
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Broad distal phalanx of finger, Sensorineural hearing impairment, Pectus excavatum,...	OMIM:619194
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Hydrocephalus, Dental crowding, Mandibular prognathia, Shortening o...	OMIM:101600
Fanconi Anemia, Complementation Group E	Microphthalmia, Hyperpigmentation of the skin, Hypergonadotropic hypogonadism, Cafe-au-lait spot,...	OMIM:600901
Williams Syndrome	Abnormal carotid artery morphology, Chronic otitis media, Abnormal form of the vertebral bodies, ...	ORPHA:904
Yunis-Varon Syndrome	Rocker bottom foot, Microphthalmia, Absent sternal ossification, Abnormal finger morphology, Shor...	ORPHA:3472
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Cleft palate, Death in infancy, Bifid uvula	OMIM:258320
Cardiofaciocutaneous Syndrome	Short nose, Low-set, posteriorly rotated ears, Hydrocephalus, Anteverted nares, Full cheeks, Macr...	ORPHA:1340
Adams-Oliver Syndrome 5	Inguinal hernia, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement,...	OMIM:616028
Tetrasomy 15Q26	Kyphoscoliosis, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, Low-set ears, ...	OMIM:614846
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Sensorineural hearing impairment, Heteroc...	OMIM:193510
Legius Syndrome	Supravalvar pulmonary stenosis	OMIM:611431
Zika Virus Disease	Wrist swelling, Congenital intracerebral calcification, Optic disc hypoplasia, Chorioretinal atro...	ORPHA:448237
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Retrognathia, Short clavicles, Microtia, Recurrent shoulder dislocation, Cardiomyopathy, Finger j...	OMIM:212112
Hallermann-Streiff Syndrome	Microphthalmia, Hyperlordosis, Pectus excavatum, Microcephaly, Narrow nose, Decreased number of s...	OMIM:234100
Meckel Syndrome, Type 2	Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ...	OMIM:603194
Martsolf Syndrome 1	Microphthalmia, Slender ulna, Pectus carinatum, Cardiomyopathy, Short metacarpal, Pectus excavatu...	OMIM:212720
Roifman Syndrome	Biconvex vertebral bodies, Short metacarpal, Microcephaly, Irregular femoral epiphysis, Narrow no...	OMIM:616651
Mulibrey Nanism	Astigmatism, Cardiomegaly, Wide nose, Absent frontal sinuses, Single transverse palmar crease, Co...	OMIM:253250
Mcdonough Syndrome	Bilateral single transverse palmar creases, Short palpebral fissure, Protruding ear, Low-set, pos...	ORPHA:2471
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Hypoplastic iliac wing, Sensorineural hearing impairment, Microcephaly, Abnormal ce...	ORPHA:2637
Lujan-Fryns Syndrome	Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Hypoplasia of the max...	ORPHA:776
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Cerebral atrophy, Abnormal basal ganglia MRI signal intensity, Interrupted aortic ar...	ORPHA:17
Catifa Syndrome	Tooth malposition, Delayed eruption of teeth, Increased overbite, Camptodactyly, Cleft palate, Lo...	OMIM:618761
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Microtia, Low-set ears, Macrotia, Micrognathia, Posteriorly rotated ears, Hypoplasia of the zygom...	OMIM:620663
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left...	ORPHA:2326
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Death in infancy, Micromelia,...	OMIM:241800
Fanconi Anemia, Complementation Group A	Microphthalmia, Hypergonadotropic hypogonadism, Cafe-au-lait spot, Abnormality of skin pigmentati...	OMIM:227650
Floating-Harbor Syndrome	Kyphoscoliosis, Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial...	OMIM:136140
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Macular exudate, Retinal neovascularization, Chorioretina...	ORPHA:891
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertrophy, Coarctation of aort...	OMIM:616564
X-Linked Intellectual Disability, Nascimento Type	Hypointensity of cerebral white matter on MRI, Patchy hypo- and hyperpigmentation, Overlapping to...	ORPHA:163956
Oliver-Mcfarlane Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Peripheral axonal neuropa...	OMIM:275400
Marfan Syndrome	Kyphoscoliosis, Retrognathia, Spondylolisthesis, Pectus carinatum, Pectus excavatum, Arachnodacty...	OMIM:154700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Occipital encephalocele, 11 pairs of ribs, Retinal dysplasia, Anencephaly,...	OMIM:615287
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Thyroid hypoplasia, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abn...	OMIM:308050
Orofaciodigital Syndrome Viii	Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip	OMIM:300484
Mucopolysaccharidosis Type 2, Attenuated Form	Sensorineural hearing impairment, Temporomandibular joint ankylosis, Corneal opacity, Cardiomyopa...	ORPHA:217093
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Sensorineural hearing impairment, Short long bone, Hyperlordosis, Metaphyseal irregularity, Centr...	OMIM:616007
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypopl...	OMIM:300863
Craniosynostosis And Dental Anomalies	Chronic otitis media, Supernumerary tooth, Wide nose, Absent malleus, Delayed eruption of teeth, ...	OMIM:614188
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Micrognathia, Cleft palate, Abnormal morphology of ulna, A...	ORPHA:971
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Bell-shaped thorax, Meningocele, Hydranencephaly, Cerebral calcif...	ORPHA:1393
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal,...	OMIM:617926
Roifman Syndrome	Bilateral single transverse palmar creases, Biconvex vertebral bodies, Microcephaly, Prominent ey...	ORPHA:353298
Flynn-Aird Syndrome	Cerebral calcification, Scoliosis, Kyphosis, Cerebral cortical atrophy, Carious teeth, Primary ad...	ORPHA:2047
Auriculocondylar Syndrome 3	Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear	OMIM:615706
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Asymmetry of the thorax, Cerebral calcification, Hyperlordosis, Large iliac wing, A...	ORPHA:2780
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Palpebral edema, Death in childhood, Cubitus valgus, Single transverse pal...	OMIM:214110
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ...	OMIM:132900
Neuroocular Syndrome	Retrognathia, Microphthalmia, Highly arched eyebrow, Prominent fingertip pads, Stellate iris, Pec...	OMIM:619539
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Thoracolumbar kyphosis, Epiphyseal stippling of...	ORPHA:56305
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Ectropion, Low-set ears, Choanal atresia, Pectu...	OMIM:263750
20Q13.33 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Atrial septal defect, Sacral dimple, Dilation of Virchow-Robin...	ORPHA:261311
Fetal Minoxidil Syndrome	Ventricular septal defect, Umbilical hernia	ORPHA:1918
Desbuquois Dysplasia 2	Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectus excavatum, Broa...	OMIM:615777
Acro-Renal-Mandibular Syndrome	Hypoplasia of the zygomatic bone, Micrognathia, Low-set, posteriorly rotated ears, Abnormality of...	ORPHA:958
Auriculoosteodysplasia	Abnormal clavicle morphology, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/H...	ORPHA:114
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Thin corpus callosum, Highly arched eyebrow, Broad 2nd toe, Pectus excavatum, Umbilical hernia, C...	OMIM:280000
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Death in childhood, Anteverted nares, Corneal opacity, Depressed nasal bridge	OMIM:618961
Blepharonasofacial Malformation Syndrome	Optic atrophy, Wide nose, Inguinal hernia, Finger syndactyly, Telecanthus, Abnormal pinna morphol...	ORPHA:1252
Cleft Velum	Conductive hearing impairment, Recurrent otitis media	ORPHA:99772
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Pterygium, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Hydranencephaly, Microcephal...	OMIM:225790
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Ruvalcaba Syndrome	Limited elbow extension, Delayed puberty, Short metatarsal, Retinal dystrophy, Narrow chest, Ingu...	OMIM:180870
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Kbg Syndrome	Telecanthus, Anteverted nares, Single transverse palmar crease, Bilateral conductive hearing impa...	ORPHA:2332
Monosomy 18Q	Kyphoscoliosis, Pulmonary valve defects, Sensorineural hearing impairment, Pectus excavatum, Atla...	ORPHA:1600
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment	OMIM:132450
Nephroblastoma	Aniridia	ORPHA:654
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Myocardial infarction, Atrioventricular canal defect, Vascular d...	ORPHA:500
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Abnormal pinna morphology, Low-set ears, Pectus excavatum, Abnormal optic nerve morphology, Depre...	ORPHA:77300
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Opti...	OMIM:611040
Doors Syndrome	Bilateral ptosis, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Abnormal f...	ORPHA:79500
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Inguinal hernia, Meningocele, Finger syndactyly, Short thorax,...	ORPHA:2311
Fibrochondrogenesis 1	Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Hypoplastic...	OMIM:228520
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Corneal opacity, Microcephaly, Chorioretinal dysplasia, Optic atrophy, Astigmatis...	OMIM:152950
Hypertelorism-Microtia-Facial Clefting Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Microtia	ORPHA:2213
Microtia	Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog...	ORPHA:83463
Koolen-De Vries Syndrome	Pectus excavatum, Kyphosis, Microcephaly, Arachnodactyly, Bicuspid aortic valve, Abnormal cardiac...	ORPHA:96169
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Mixed hearing impairment, Microtia, Thyroid hypoplasia, Lacrimal duct aplasia, Ap...	OMIM:620186
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Aniridia	OMIM:194072
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Joubert Syndrome 14	Microphthalmia, Highly arched eyebrow, Optic atrophy, Encephalocele, Meningocele, Hydrocephalus, ...	OMIM:614424
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph...	ORPHA:240
Otofaciocervical Syndrome	Abnormal antihelix morphology, Atresia of the external auditory canal, Macrotia, Conductive heari...	ORPHA:2792
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Hypopigmentation o...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Hypopigmentation o...	ORPHA:363958
Fraser Syndrome 2	Microphthalmia, Wide nose, Short thorax, Low-set ears, Hypoplasia of the thymus, Atresia of the e...	OMIM:617666
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Brachydactyly	OMIM:613819
Filippi Syndrome	Optic atrophy, Finger clinodactyly, Low hanging columella, Single transverse palmar crease, Serra...	OMIM:272440
Wolfram Syndrome 1	Optic atrophy, Cerebral atrophy, Diabetes insipidus, Sensorineural hearing impairment, Cardiomyop...	OMIM:222300
Spinocerebellar Ataxia, Autosomal Recessive 29	Eye of the tiger anomaly of globus pallidus, Peripheral axonal neuropathy, Corpus callosum atroph...	OMIM:619389
Ciliary Dyskinesia, Primary, 38	Chronic otitis media, Conductive hearing impairment	OMIM:618063
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test, Polycoria, Aniridia, Microcornea, Megaloco...	OMIM:180500
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Malar f...	ORPHA:93262
Keutel Syndrome	Optic atrophy, Recurrent otitis media, Wide nose, Pulmonary artery stenosis, Hearing impairment, ...	ORPHA:85202
Microphthalmia, Syndromic 5	Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microcornea, C...	OMIM:610125
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Optic d...	ORPHA:263479
Mucopolysaccharidosis Type 2, Severe Form	Sensorineural hearing impairment, Temporomandibular joint ankylosis, Corneal opacity, Cardiomyopa...	ORPHA:217085
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Anencephaly, Aplasia/Hypoplasia of the thumb, Abs...	ORPHA:96176
Maternal Phenylketonuria	Hypoplasia of the corpus callosum, Bilateral ptosis, Deviated nasal septum, Hypoplastic helices, ...	ORPHA:2209
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri...	OMIM:126320
Intellectual Developmental Disorder, Autosomal Dominant 73	Bilateral single transverse palmar creases, Long nose, Retrognathia, Highly arched eyebrow, Micro...	OMIM:620450
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Atrioventricular canal defect, Abnormal aortic valve morphology, Tricuspid regurgitation, Spina b...	ORPHA:1120
Ulnar-Mammary Syndrome	Hypoplasia of the ulna, Aplasia of the 4th metacarpal, Hypoplasia of the radius, Aplasia of the 5...	OMIM:181450
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Semilobar holoprosencephaly, Sensorineural hearing impairment, Microtia, Low-set ears, Lobar holo...	OMIM:618500
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Floating-Harbor Syndrome	Kyphoscoliosis, Long nose, Mesocardia, Dislocated radial head, Short metacarpal, Cochlear malform...	ORPHA:2044
Mungan Syndrome	Pulmonic stenosis, Perimembranous ventricular septal defect, Tricuspid regurgitation	OMIM:611376
Leri-Weill Dyschondrosteosis	Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi...	OMIM:127300
Microphthalmia, Isolated 8	Short palpebral fissure, Microphthalmia, True anophthalmia, Entropion, Anophthalmia, Retinal deta...	OMIM:615113
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Inguinal hernia, Abnormality of the endocrine system, Abnormal vena cava morphology, Absent eyela...	ORPHA:166035
Frontorhiny	Microphthalmia, Hypoplastic frontal sinuses, Low-set, posteriorly rotated ears, Encephalocele, Di...	ORPHA:391474
Axenfeld-Rieger Syndrome, Type 3	Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Hypoplasia of the iris, Posterior...	OMIM:602482
Joubert Syndrome 15	Preaxial polydactyly, Retinal dystrophy, Coloboma, Retinopathy, Exencephaly	OMIM:614464
Ablepharon-Macrostomia Syndrome	Absent eyelashes, Clinodactyly of the 5th finger, Aplastic zygomatic arch, Microtia, third degree...	OMIM:200110
Atelosteogenesis, Type Ii	Stillbirth, Sandal gap, Short greater sciatic notch, Bifid humerus, Hitchhiker thumb, Flat acetab...	OMIM:256050
Schisis Association	Anencephaly, Encephalocele, Spina bifida, Microcephaly, Micromelia, Omphalocele	ORPHA:63862
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,...	OMIM:612712
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cerebral atrophy, Hydrocephalus, Wide anterior fontanel, Microcephaly, Prominence of the premaxil...	OMIM:614886
Tyshchenko Syndrome	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:615102
Ramon Syndrome	Sensorineural hearing impairment, Conductive hearing impairment	ORPHA:3019
Leber Congenital Amaurosis 1	Optic disc drusen, Keratoconus, Sensorineural hearing impairment, Fundus atrophy, Attenuation of ...	OMIM:204000
Acrodysostosis 1 With Or Without Hormone Resistance	Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi...	OMIM:101800
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber,...	OMIM:305390
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Abnormality of the ...	ORPHA:163966
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Abnormal pinna morphology, Abnormal cortical gyration, Dandy-Walker ...	OMIM:236680
Waardenburg Syndrome, Type 2E	Premature graying of hair, Hypopigmented skin patches, Vascular dilatation, Hypoplasia of the sem...	OMIM:611584
Chromosome 8Q21.11 Deletion Syndrome	Hypoplasia of the corpus callosum, Short palpebral fissure, Microphthalmia, Protruding ear, Senso...	OMIM:614230
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Microcephaly, Overlapping toe, Abnormal cardiac septum morphology, Astigmatism, Ing...	OMIM:613026
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect, Patent ductus arteriosus	OMIM:619717
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hypoplasia of the zygomatic bone	OMIM:614800
Tarp Syndrome	Rocker bottom foot, Small earlobe, Pectus excavatum, Clinodactyly, Optic atrophy, Low-set, poster...	ORPHA:2886
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Microphthalmia, Cataract	ORPHA:1617
Branchiootic Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf...	OMIM:602588
Gms Syndrome	Low-set ears, Microcephaly, Rieger anomaly, Downslanted palpebral fissures, Epicanthus, Depressed...	ORPHA:2090
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Short nose, Transposition of the great arteries, Abno...	ORPHA:1913
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Microc...	OMIM:193700
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Cerebellar hypoplasia, Abnormality of retinal pigmentation	ORPHA:2246
8Q21.11 Microdeletion Syndrome	Microphthalmia, Corneal opacity, Absent palmar crease, Abnormal metacarpal morphology, Hearing im...	ORPHA:284160
Multiple Sulfatase Deficiency	Optic atrophy, Hydrocephalus, Anteverted nares, Sensorineural hearing impairment, Corneal opacity...	ORPHA:585
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Protruding ear, Bulbous nose, Midface retrusion, Hypoplasia of the maxilla	OMIM:618737
2Q31.1 Microdeletion Syndrome	Microphthalmia, Sandal gap, Kyphosis, Microcephaly, Abnormal fibula morphology, Abnormal tibia mo...	ORPHA:251014
Aicardi Syndrome	Delayed puberty, Microphthalmia, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Optic atroph...	ORPHA:50
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Macrotia, Mandibular prognathia	ORPHA:93950
Donnai-Barrow Syndrome	Short nose, Retinal dystrophy, Retinal detachment, Depressed nasal bridge, Iris coloboma	ORPHA:2143
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Retrognathia, Telecanthus, Wide anterior fontanel, Short long bone,...	OMIM:263210
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, Sensorineural hearing impairment, Abnormal pinna morphology, Scoliosis, Low-set ear...	ORPHA:52055
Congenital Muscular Dystrophy With Intellectual Disability	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Scoliosis, Facial palsy, Abnorma...	ORPHA:370968
Multicentric Carpotarsal Osteolysis Syndrome	Wrist swelling, Metacarpal osteolysis, Carpal osteolysis, Ulnar deviation of the hand or of finge...	OMIM:166300
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr...	OMIM:270100
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology	ORPHA:3405
Cardioacrofacial Dysplasia 1	Genu valgum, Short philtrum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Lim...	OMIM:619142
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Mucopolysaccharidosis Type 2	Sensorineural hearing impairment, Temporomandibular joint ankylosis, Corneal opacity, Cardiomyopa...	ORPHA:580
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Highly arched eyebrow, Sensorineural hearing impairment, A...	OMIM:194190
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Mitral valve prolapse, Inguinal hernia, Spina bifida	OMIM:211960
9Q31.1Q31.3 Microdeletion Syndrome	Highly arched eyebrow, Short clavicles, Mandibular prognathia, Broad nasal tip, Type II diabetes ...	ORPHA:401923
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Mandibular prognathia, Ec...	ORPHA:94066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Transposition of the great arteries, Encephalocele, Hydrocephalus, Pulmonic stenosis, Myocardial ...	OMIM:253800
Cleft Palate, Deafness, And Oligodontia	Bilateral conductive hearing impairment	OMIM:216300
Adams-Oliver Syndrome 6	Truncus arteriosus, Foot oligodactyly, Syndactyly, Brachydactyly, Ventricular septal defect	OMIM:616589
Hutchinson-Gilford Progeria Syndrome	Abnormal nasal tip morphology, Hypermelanotic macule, Retrognathia, Narrow nasal ridge, Ventricul...	ORPHA:740
Alazami-Yuan Syndrome	Low hanging columella, Highly arched eyebrow, Single transverse palmar crease, Long eyelashes, Mi...	OMIM:617126
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac...	DECIPHER:46
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotension, Pulmonic stenosis, Aortic...	ORPHA:99147
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Hyperinsulinemia, Death in early adulthood, Narrow nasal ridge, Short clavicles, Oste...	OMIM:608612
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr...	ORPHA:1801
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Atresia of the external auditory canal, Conductive hearing impairment, Microtia	OMIM:300946
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Lowry-Maclean Syndrome	Cleft palate, Delayed eruption of teeth	OMIM:600252
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
Kuskokwim Syndrome	Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the pa...	ORPHA:1149
Pallister-Hall Syndrome	Microphthalmia, Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesome...	OMIM:146510
Enlarged Parietal Foramina	Occipital encephalocele, Venous malformation, Short clavicles, Myelomeningocele, Broad thumb, Abn...	ORPHA:60015
Vici Syndrome	Optic atrophy, Sensorineural hearing impairment, Cardiomyopathy, Hypopigmentation of the skin, De...	ORPHA:1493
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Sacral dimple, Encephalocele, Lissencephaly, Finger syndactyly, Polym...	ORPHA:2211
Deafness, Autosomal Recessive 88	Mixed hearing impairment	OMIM:615429
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Dental crowding, Open bite, Hyperplasia of the maxilla	OMIM:613671
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the earlobes...	ORPHA:3082
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Cleft palate, Bifid u...	ORPHA:2521
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Remnants of t...	OMIM:221900
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Foot polydactyly, Postaxial hand polydactyly	ORPHA:2155
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Po...	OMIM:607361
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Corneal opacity, Microcephaly, Lipomas of eyelids, Abnormality of cartilage of ex...	ORPHA:2399
Microphthalmia, Syndromic 6	Retrognathia, Microphthalmia, Inferior cerebellar vermis hypoplasia, Female hypogonadism, Microce...	OMIM:607932
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hypoplasia of the corpus callosum, Megalencephaly, Abnormally large globe, Hydrocephalus, Polymic...	OMIM:603387
Carey-Fineman-Ziter Syndrome 2	Abnormal nasal septum morphology, Anteverted nares, Scoliosis, Low-set ears, Micrognathia, Poster...	OMIM:619941
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Cerebral atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal autonomic nervous system physiology, Shallow orbits, Microcephaly, Abnormal heart morpho...	ORPHA:453499
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Myelo...	ORPHA:66637
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elb...	OMIM:253000
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Genu valgum, Small epiphyses, Mandibular prognathia, Short long bone, Hi...	OMIM:618363
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax...	OMIM:615986
Holoprosencephaly-Postaxial Polydactyly Syndrome	Orofacial cleft, Encephalocele, Hydrocephalus, Narrow mouth, Postaxial hand polydactyly, Anal atr...	ORPHA:2166
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Hypoplasia of the corpus callosum, Megalopapilla, Single ...	OMIM:615636
Acromesomelic Dysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Hypoplasi...	OMIM:602875
Fliedner-Zweier Syndrome	Hypoplasia of the corpus callosum, Hypoplastic aortic arch, Meningocele, Scoliosis, Ventricular s...	OMIM:620511
Craniometaphyseal Dysplasia	Sensorineural hearing impairment, Conductive hearing impairment	ORPHA:1522
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Sjögren-Larsson Syndrome	Corneal erosion, Macular degeneration, Abnormal dental enamel morphology, Scoliosis, Kyphosis, Re...	ORPHA:816
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Omphalocele, Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial se...	OMIM:601927
Lowry-Maclean Syndrome	Retrognathia, Developmental glaucoma, Corneal opacity, Microcephaly, Short nasal bridge, Delayed ...	ORPHA:2409
Solitary Median Maxillary Central Incisor	Cyclopia, Microphthalmia, Decreased response to growth hormone stimulation test, Anterior hypopit...	OMIM:147250
Harel-Yoon Syndrome	Optic atrophy, Short nose, Developmental cataract, Corneal opacity	OMIM:617183
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Hajdu-Cheney Syndrome	Wide nose, Hydrocephalus, Absent frontal sinuses, Anteverted nares, Low-set ears, Full cheeks, He...	ORPHA:955
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l...	OMIM:611561
Fgfr2-Related Bent Bone Dysplasia	Congenital stationary night blindness, Bell-shaped thorax, Short clavicles, Abnormality of the ou...	ORPHA:313855
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of...	OMIM:300244
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Atresia of the external auditory canal, Bilateral conductive hearing impairment	ORPHA:2010
Radial Hemimelia	Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali...	ORPHA:93321
Aicardi-Goutières Syndrome	Calcification of the aorta, Moyamoya phenomenon, Hypoplasia of the corpus callosum, Developmental...	ORPHA:51
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormality of the pulmonary artery, Ventricular septal defect, Abnormal aortic morphology, Tetra...	ORPHA:1166
Aminopterin Syndrome Sine Aminopterin	Oligodontia, High palate, Arachnodactyly, Micrognathia, Cleft palate, Rudimentary postaxial polyd...	OMIM:600325
Marbach-Rustad Progeroid Syndrome	Femur fracture, Hyperintensity of cerebral white matter on MRI, Ventricular septal hypertrophy, S...	OMIM:619322
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Per...	OMIM:218000
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Short 4th metacarpal, Short clavicles, Microcephaly, Ptosis, Microretrognathia, Prominent nose, B...	OMIM:606220
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Seckel Syndrome 1	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Abnormal ...	OMIM:210600
Oculodentodigital Dysplasia	Microphthalmia, Joint contracture of the 5th finger, Abnormal pinna morphology, Microcephaly, Cli...	OMIM:164200
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat...	OMIM:309350
Branchioskeletogenital Syndrome	Mixed hearing impairment, Highly arched eyebrow, Upper limb peromelia, Pectus excavatum, Microcep...	ORPHA:1299
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Glossoptosis, Micrognathia, Cleft palate, Malar flattening, Long ...	ORPHA:166100
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Edinburgh Malformation Syndrome	Short nose, Anteverted nares, Choanal atresia, Aplasia/Hypoplasia affecting the eye, Brushfield s...	ORPHA:1895
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,...	ORPHA:2255
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Cleft palate	OMIM:612913
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Caudate atrophy, Scoliosis, Ptosis, Agenesis of corpus callosum, Adrenal insuffici...	OMIM:618238
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Telecanthus, Cleft ala nasi, Convex nasal ridge, Wide nasal bridge, Underdeveloped nasal alae	ORPHA:2007
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart	OMIM:614474
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis...	OMIM:617967
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Optic atrophy, Short nose, Death in infancy	ORPHA:1495
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Short ribs, Flat acetabular roof, Hypoplastic ischia, Dumbbell-shaped long bone,...	OMIM:151210
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay...	ORPHA:1856
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Obtuse angle of mandible, Temporomandibular joint ankylosis, Corneal o...	ORPHA:2741
19P13.3 Microduplication Syndrome	Cerebral atrophy, Kyphoscoliosis, Hip subluxation, Telecanthus, Microtia, Low-set ears, Microceph...	ORPHA:447980
Chromosome 6Q24-Q25 Deletion Syndrome	Atrial septal defect, Persistent fetal circulation, Dysplastic pulmonary valve, Hydrocephalus, Dy...	OMIM:612863
Diabetic Embryopathy	Transposition of the great arteries, Aplasia/Hypoplasia of the corpus callosum, Low-set, posterio...	ORPHA:1926
Alopecia Antibody Deficiency	Conductive hearing impairment	ORPHA:1006
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Abruzzo-Erickson Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Macrotia	ORPHA:921
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Aortic Valve Disease 3	Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ...	OMIM:618496
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Otopalatodigital Syndrome Type 1	Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor...	ORPHA:90650
Trisomy 18P	Telecanthus, Highly arched eyebrow, Blepharophimosis, Abnormal finger morphology, Abnormal pinna ...	ORPHA:1715
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Sensorineural hearing impairment, Hyperlordosis, Kyphosis, Hypergonadotropic hy...	ORPHA:3085
Acalvaria	Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Cleft palate, Holoprosencephaly	ORPHA:945
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Microphthalmia, Femoral bowing, Short long bone, Tibial bowing, Sho...	OMIM:608940
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Distal Deletion 15Q	Abnormal aortic arch morphology, Microcephaly, Double outlet right ventricle with doubly committe...	ORPHA:1596
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Hypoplasia of the corpus callosum, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the pha...	OMIM:617102
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Cardiofaciocutaneous Syndrome 4	Pulmonic stenosis, Ventricular septal hypertrophy, Abnormal aortic valve morphology	OMIM:615280
Phacoanaphylactic Uveitis	Cystoid macular edema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseudophakia, ...	ORPHA:209959
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Long philtrum, Cone-shaped epiphysis, Short philtrum, Bilater...	ORPHA:439822
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Macular dystrophy, Clinodactyly of the 5th finger, Retinal dystrophy, T...	ORPHA:140952
Isolated Exencephaly	Abnormal facial skeleton morphology, Hypoplasia of the frontal bone, Low-set ears, Holoprosenceph...	ORPHA:563612
Rhizomelic Syndrome, Urbach Type	Pulmonic stenosis	ORPHA:3098
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Iniencephaly	Rocker bottom foot, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformat...	ORPHA:63259
Weiss-Kruszka Syndrome	Short nose, Prominent nasal tip	ORPHA:502430
Uruguay Faciocardiomusculoskeletal Syndrome	Retrognathia, Limited elbow movement, Talipes equinovarus, Dislocation of toes, Everted lower lip...	OMIM:300280
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d...	ORPHA:99094
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose	OMIM:200130
Juvenile Glaucoma	Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal arterial occlusion, Abn...	ORPHA:98977
Moebius Syndrome	Aplasia of the pectoralis major muscle, Corneal opacity, Death in infancy, Aplasia/Hypoplasia inv...	ORPHA:570
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus	ORPHA:261120
Goldberg-Shprintzen Syndrome	Corneal erosion, Highly arched eyebrow, Microcephaly, Aganglionic megacolon, Polymicrogyria, Incr...	OMIM:609460
Microphthalmia, Syndromic 1	Kyphoscoliosis, Microphthalmia, Radial deviation of finger, Abnormal pinna morphology, Prominent ...	OMIM:309800
Otopalatodigital Syndrome Type 2	Developmental glaucoma, Abnormal pinna morphology, Flared iliac wing, Hypoplastic frontal sinuses...	ORPHA:90652
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Mixed hearing impairment, Congenital sensorineural hearing impairment	ORPHA:2698
Sheldon-Hall Syndrome	Bilateral single transverse palmar creases, Protruding ear, Tarsal synostosis, Abnormal hip bone ...	ORPHA:1147
Lethal Osteosclerotic Bone Dysplasia	Short nose, Anteverted nares, Depressed nasal ridge	ORPHA:1832
Distal Duplication 5Q	Hypoplasia of the ulna, Short nose, Hypoplasia of the radius, Dextrocardia, Low-set ears, Microce...	ORPHA:96097
Smith-Magenis Syndrome	Abnormal middle ear morphology, Abnormal nerve conduction velocity, Retinal detachment, Mandibula...	OMIM:182290
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Thin corpus callosum, Dilation of Virchow-Robin spaces, Broad thumb, Microcephaly, Bicuspid aorti...	OMIM:619720
Waardenburg-Shah Syndrome	Abnormality of the nose, Premature graying of hair, Aganglionic megacolon, Hypopigmentation of ha...	ORPHA:897
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Mandibular prognathia, High palate, Long palm	OMIM:300676
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Hypoplastic pelvis, Hypoplas...	OMIM:616300
Ulna Metaphyseal Dysplasia Syndrome	Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma...	ORPHA:1837
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency, Anencephaly	ORPHA:1048
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De...	OMIM:617405
Mucopolysaccharidosis Type 3	Chronic otitis media, Mixed hearing impairment, Abnormal form of the vertebral bodies, Sensorineu...	ORPHA:581
Frontonasal Dysplasia With Alar Clefts	Cleft ala nasi, Telecanthus, Underdeveloped nasal alae	OMIM:203000
Adams-Oliver Syndrome 1	Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Pulmonary artery...	OMIM:100300
Microphthalmia, Lenz Type	Microphthalmia, Abnormal pinna morphology, Hyperlordosis, Kyphosis, Microcephaly, Ankyloblepharon...	ORPHA:568
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Abnormal pinna morphology, Enlarged thorax, Broad thumb, Microcephal...	ORPHA:251071
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Microphthalmia, Anteverted nares, Cataract, Bulbous nose, Retinal pigment epithelial ...	OMIM:614105
Apert Syndrome	Narrow palate, Esophageal atresia, Delayed eruption of teeth, Hydrocephalus, Aplasia/Hypoplasia o...	ORPHA:87
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:617044
Uveal Melanoma	Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat...	ORPHA:39044
Perlman Syndrome	Interrupted aortic arch, Low-set ears, Micrognathia, Agenesis of corpus callosum, Pancreatic isle...	OMIM:267000
Noonan Syndrome 5	Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:611553
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Small earlobe, Corneal opacity, Mic...	ORPHA:364577
Narp Syndrome	Retinal arteriolar tortuosity, Abnormal basal ganglia MRI signal intensity, Cerebral cortical atr...	ORPHA:644
Bent Bone Dysplasia Syndrome 1	Bell-shaped thorax, Abnormally large globe, Hypoplastic pubic bone, Short clavicles, Low-set ears...	OMIM:614592
Monosomy 9P	Bilateral single transverse palmar creases, Microphthalmia, Proximal placement of thumb, Highly a...	ORPHA:261112
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Pectus carinatum, Abnormal pinna morphology, Pectus excavatum, Shallow or...	OMIM:182212
Microcephaly-Capillary Malformation Syndrome	Optic atrophy, Short nose, Cerebral atrophy, Hypoplasia of the corpus callosum, Wide nose, Progre...	OMIM:614261
Johnson Neuroectodermal Syndrome	Protruding ear, Absent eyebrow, Microtia, Absent eyelashes, Facial palsy, Anosmia, Choanal atresi...	ORPHA:2316
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp...	OMIM:614078
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Woolly Hair	Cataract, Abnormal pupil morphology, Abnormal retinal morphology	ORPHA:170
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula...	OMIM:133780
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Thin corpus callosum, Hyperlordosis, Corneal opacity, Kyphosis, Aortic valve...	OMIM:253010
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly...	ORPHA:1788
Peho-Like Syndrome	Optic atrophy, Short nose	OMIM:617507
Nephronophthisis 15	Polydactyly	OMIM:614845
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal optic nerve morphology, Shallo...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal optic nerve morphology, Shallo...	ORPHA:352665
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Pulmonary arterial hypertension, Aortic valve stenosis, Pul...	OMIM:615067
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Sensorineural hearing impairment, Retinal atrophy, Ab...	OMIM:216400
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Blepharo-Cheilo-Odontic Syndrome	Conductive hearing impairment	ORPHA:1997
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth	OMIM:183300
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Branchiogenic-Deafness Syndrome	Atresia of the external auditory canal, Sensorineural hearing impairment, Mixed hearing impairmen...	OMIM:609166
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:271700
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology	ORPHA:83473
Oculotrichoanal Syndrome	Microphthalmia, Upper eyelid coloboma, Anophthalmia, Bifid nasal tip, Cryptophthalmos, Nasolacrim...	ORPHA:2717
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At...	OMIM:612561
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	High palate, Broad thumb, Micrognathia, Long hallux, Hallux valgus, Clinodactyly, Hyperplasia of ...	OMIM:620194
Mietens Syndrome	Short nose, Wide nose, Microcornea, Corneal opacity, Sclerocornea, Cataract, Wide nasal bridge	ORPHA:2557
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the inner ear, Sensorineural hearing impairment, Microtia, Abnormality of the midd...	ORPHA:2549
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...	OMIM:609033
Giant Cell Arteritis	Optic atrophy, Recurrent pharyngitis, Diabetes insipidus, Vasculitis, Vertigo, Double outlet righ...	ORPHA:397
Aarskog-Scott Syndrome	Radial deviation of finger, Hyperextensibility of the finger joints, Short 5th finger, Single tra...	OMIM:305400
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Single transverse palmar crease, Carious teeth, Micrognathia, Cleft palate,...	OMIM:101805
Kaufman Oculocerebrofacial Syndrome	Abnormal pinna morphology, Microcephaly, Astigmatism, Anteverted nares, Carious teeth, Long palm,...	OMIM:244450
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Wide nose, Retinal detachm...	OMIM:607143
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Death in infancy, Arachnodactyly, Micrognathia, Cleft palate, Malar flattening	ORPHA:93946
Hypophosphatemic Rickets, Autosomal Recessive, 2	Pulmonic stenosis	OMIM:613312
Multicentric Osteolysis, Nodulosis, And Arthropathy	Thin metacarpal cortices, Wrist flexion contracture, Broad metatarsal, Osteolysis involving tarsa...	OMIM:259600
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Death in childhood, High palate, Bowing of the long bones, Spina bifida, Arachnodac...	OMIM:614437
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met...	ORPHA:93351
Hypomandibular Faciocranial Dysostosis	Midface retrusion, Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Low-set ears, Choan...	ORPHA:1790
Schneckenbecken Dysplasia	Snail-like ilia, Short ribs, Flat acetabular roof, Short long bone, Dumbbell-shaped long bone, Th...	OMIM:269250
Congenital Herpes Simplex Virus Infection	Microcephaly, Hydranencephaly	ORPHA:293
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla	OMIM:183400
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Non-Functioning Paraganglioma	Conductive hearing impairment, Paroxysmal vertigo, Tremor, Pulsatile tinnitus	ORPHA:94080
3M Syndrome	Rocker bottom foot, Enlarged thorax, Hyperlordosis, Kyphosis, Hypoplastic pelvis, Hypoplastic isc...	ORPHA:2616
Zechi-Ceide Syndrome	Abnormal earlobe morphology, Stenosis of the external auditory canal, Abnormal helix morphology, ...	ORPHA:217017
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ...	OMIM:147891
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Pulmonic stenosis, Aortic valve stenosis	ORPHA:75496
Histiocytoid Cardiomyopathy	Optic atrophy, Microphthalmia, Hydrocephalus, Corneal opacity, Congenital aphakia, Megalocornea, ...	ORPHA:137675
Filippi Syndrome	Optic atrophy, Clinodactyly of the 5th toe, Bilateral single transverse palmar creases, Clinodact...	ORPHA:3255
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Turricephaly, Finger syndactyly, Abnormal antihelix morphology, Microtia, Split ha...	ORPHA:2145
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Lambert Syndrome	Branchial anomaly, Ventricular septal defect, Inguinal hernia	ORPHA:1296
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo...	ORPHA:261183
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Ogden Syndrome	Cerebral atrophy, Inguinal hernia, Scoliosis, Low-set ears, Pulmonary artery stenosis, Macrotia, ...	ORPHA:276432
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cervical C2/C3 vertebral fusion, Cardiomyopathy, Low-set ears, Microcephaly, Thoracolumbar scolio...	OMIM:616549
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Genu varum, Anterior polar ca...	OMIM:250420
Aicardi Syndrome	Microphthalmia, Proximal placement of thumb, Microcephaly, Optic atrophy, Butterfly vertebrae, Ce...	OMIM:304050
Hypoglossia-Hypodactyly Syndrome	Hypoplasia of the zygomatic bone, Micrognathia, Wide nasal bridge	ORPHA:989
Microcephaly-Cardiomyopathy Syndrome	Clinodactyly of the 5th finger, Sandal gap, Microcephaly, Abnormality of retinal pigmentation, Ab...	ORPHA:2515
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
Pterygium Colli, Isolated	Short nose	OMIM:177990
Spondylocarpotarsal Synostosis Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Pectus carinatum, Hyperlordosis, Shor...	OMIM:272460
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Highly arched eyebrow, Short metacarpal, Microcephaly...	ORPHA:1001
Viss Syndrome	Rocker bottom foot, Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Ectropion, Ar...	OMIM:619472
X-Linked Recessive Ocular Albinism	Astigmatism, Iris hypopigmentation, Hypoplasia of the fovea, Abnormal macular morphology, Abnorma...	ORPHA:54
Microphthalmia, Syndromic 8	Orofacial cleft, Mandibular prognathia, Split foot, Cleft upper lip, Cleft palate, Widely-spaced ...	OMIM:601349
Pierpont Syndrome	Short nose, Microphthalmia, Wide nose, Microcornea, Broad nasal tip	OMIM:602342
Hadziselimovic Syndrome	Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven...	OMIM:612946
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Broad nasal tip	OMIM:613670
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short uvula, Short lingual frenulum, Short long bone, High palate, Flat acetabular r...	OMIM:614091
10Q22.3Q23.3 Microduplication Syndrome	Chronic otitis media, Abnormal clavicle morphology, Low-set ears, Abnormal rib morphology, Microc...	ORPHA:276422
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Pulmonic stenosis, Atrial septal defect	OMIM:618282
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Upper eyelid entropion, Clinodactyly of the 5th finger, Hypopl...	ORPHA:457284
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Coffin-Siris Syndrome 12	Highly arched eyebrow, Sensorineural hearing impairment, Pectus excavatum, Broad thumb, Microceph...	OMIM:619325
Cockayne Syndrome	Delayed puberty, Microphthalmia, Cerebral dysmyelination, Progressive microcephaly, Cerebral calc...	ORPHA:191
Bardet-Biedl Syndrome 19	Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula...	OMIM:615996
Pycnodysostosis	Short finger, Rhizomelia, Obtuse angle of mandible, Hypoplastic iliac wing, Osteolytic defects of...	ORPHA:763
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy...	OMIM:601216
Endocrine-Cerebroosteodysplasia	Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Hydrocephalus, Microm...	OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Scoliosis, Hyperlordosis, Facial...	OMIM:613156
Pseudoachondroplasia	Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi...	OMIM:177170
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal...	ORPHA:91495
Noonan Syndrome 6	Pulmonic stenosis, Hypertrophic cardiomyopathy	OMIM:613224
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Developmental Delay With Or Without Dysmorphic Facies And Autism	Highly arched eyebrow, Microcephaly, Lacrimal duct aplasia, Umbilical hernia, Narrow nose, 2-3 to...	OMIM:618454
Cooper-Jabs Syndrome	Brachycephaly, Proximal placement of thumb, Abnormal hip bone morphology, Low-set, posteriorly ro...	ORPHA:1488
Kabuki Syndrome 2	Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta, Natal tooth, Atrial septa...	OMIM:300867
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Intellectual Developmental Disorder, Autosomal Dominant 43	Pulmonic stenosis, Umbilical hernia	OMIM:616977
Achondrogenesis, Type Ii	Short tubular bones of the hand, Brachycephaly, Stillbirth, Barrel-shaped chest, Abnormally large...	OMIM:200610
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:618330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Small pituitary gland, Hyperlordosis, Thyroid hypoplasia, Internally rotate...	OMIM:619503
Distal Duplication 18Q	Short nose, Anteverted nares, Choanal atresia, Prominent nasal bridge, Iris coloboma	ORPHA:1716
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Slender long bone...	OMIM:608154
Intellectual Developmental Disorder, Autosomal Dominant 45	Pulmonic stenosis, Heart murmur	OMIM:617600
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Coats Disease	Retinal telangiectasia, Exudative retinal detachment, Leukocoria	OMIM:300216
Li-Campeau Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:619189
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Dental crowding, 2-3 toe syndactyly, Exaggerated median tongue furrow, Hyperplasia...	ORPHA:313892
Klippel-Feil Syndrome 1, Autosomal Dominant	Hearing impairment, Sensorineural hearing impairment, Mixed hearing impairment, Conductive hearin...	OMIM:118100
Cat-Eye Syndrome	Microphthalmia, Abnormal rib morphology, Hearing impairment, Chorioretinal coloboma, Hip dysplasi...	ORPHA:195
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Otofaciocervical Syndrome 1	Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea	OMIM:166780
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Even-Plus Syndrome	Cataract, Short nose, Bifid nasal tip, Depressed nasal ridge	OMIM:616854
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Atrioventricular canal defect, Aplasia of the epiglottis, Narrow chest, Shor...	OMIM:617088
Premature Aging Syndrome, Penttinen Type	Retrognathia, Microphthalmia, Sensorineural hearing impairment, Tibial bowing, Corneal opacity, S...	OMIM:601812
Occipital Horn Syndrome	Limited elbow extension, Genu valgum, Orthostatic hypotension, Narrow chest, Hiatus hernia, Short...	OMIM:304150
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp...	OMIM:614524
Frontonasal Dysplasia 2	Brachycephaly, Microphthalmia, Encephalocele, Parietal foramina, Low-set ears, Tessier number 13 ...	OMIM:613451
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short nose, Microphthalmia, Retinal detachment, Anteverted nares, Cataract, Hypopigmentation of t...	ORPHA:163649
Fibrochondrogenesis	Abnormal metaphysis morphology, Plagiocephaly, Abnormal diaphysis morphology, Bell-shaped thorax,...	ORPHA:2021
Chromosome 1P36 Deletion Syndrome, Distal	Asymmetry of the ears, Sensorineural hearing impairment, Microtia, Microcephaly, Bicuspid aortic ...	OMIM:607872
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Zechi-Ceide Syndrome	Short palpebral fissure, Short metatarsal, Sandal gap, Wide nose, Cerebellar vermis hypoplasia, S...	OMIM:612916
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,...	OMIM:605282
Blue Cone Monochromatism	Corneal dystrophy, Abnormality of retinal pigmentation	ORPHA:16
Noonan Syndrome 3	Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M...	OMIM:609942
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
White Forelock With Malformations	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Spina bifida occulta, Finger s...	ORPHA:2475
Osteopetrosis, Autosomal Dominant 1	Conductive hearing impairment	OMIM:607634
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve	OMIM:300958
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears	OMIM:618672
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Camptodactyly Syndrome, Guadalajara Type 1	Midface retrusion, Short nose, Low-set, posteriorly rotated ears, Attached earlobe, Microtia, Man...	ORPHA:1327
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Inguinal hernia, Aortic root aneurysm, Ventricular hypertrophy, Pulmonic stenosis, Umbilical hern...	OMIM:620654
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Potocki-Shaffer Syndrome	Delayed puberty, Depressed nasal tip, Hypothyroidism, Micrognathia, Prominent nasal bridge, Broad...	ORPHA:52022
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Corneal neovascularization, Mixed hearing impairment, Hypoplasia of t...	ORPHA:2363
Orofaciodigital Syndrome Type 1	Chronic otitis media, Abnormal dental enamel morphology, Choanal atresia, Hearing impairment, Mic...	ORPHA:2750
Potocki-Shaffer Syndrome	Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Microcephaly, Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hy...	ORPHA:506353
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ...	OMIM:613195
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia,...	OMIM:615761
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Pulmonic stenosis, Varicose veins, Aortic dissection, Vascular dilatation	OMIM:618343
Alagille Syndrome 1	Long nose, Short distal phalanx of finger, Hypoplasia of the ulna, Band keratopathy, Chorioretina...	OMIM:118450
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Sensorineural h...	ORPHA:444077
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Choanal stenosis, Malar flattening	OMIM:241310
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Pectus excavatum, Microcephaly, Recurrent sinusitis, Overlapping toe, Decr...	OMIM:213980
19Q13.11 Microdeletion Syndrome	Retrognathia, Clinodactyly of the 5th finger, Sparse or absent eyelashes, Finger syndactyly, Micr...	ORPHA:217346
Cardiac-Urogenital Syndrome	Mesocardia, Patent urachus, Patent ductus arteriosus, Dextrocardia, Interrupted aortic arch, Scim...	OMIM:618280
Holoprosencephaly 7	Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,...	OMIM:610828
Orbital Margin, Hypoplasia Of	Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia	OMIM:165600
Chromosome 18Q Deletion Syndrome	Congestive heart failure, Inguinal hernia, Dysplastic pulmonary valve, Ascending tubular aorta an...	OMIM:601808
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Witteveen-Kolk Syndrome	Microphthalmia, Radial deviation of finger, Proximal placement of thumb, Sensorineural hearing im...	OMIM:613406
Noonan Syndrome 7	Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:613706
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Corneal neovascularization, Dilation of Virchow-Robin spaces, Corneal opacity, Ec...	OMIM:175780
Refsum Disease	Microphthalmia, Hammertoe, Sensorineural hearing impairment, Cardiomyopathy, Short metacarpal, An...	ORPHA:773
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Split foot, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of the radius, Bu...	OMIM:200980
Acrocephalopolydactyly	Short nose, Depressed nasal ridge	ORPHA:221054
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Short nose, Optic nerve hypoplasia, Corneal opacity, Cataract	ORPHA:496790
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi...	ORPHA:97341
Leber Congenital Amaurosis With Early-Onset Deafness	Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Peri...	OMIM:617879
Osteogenesis Imperfecta, Type Iv	Hearing impairment, Otosclerosis	OMIM:166220
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di...	OMIM:603546
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Microphthalmia, Abnormal sternum morphology, Short ribs, Polydactyly, Short 4th m...	OMIM:109400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353277
Cenani-Lenz Syndactyly Syndrome	Pulmonic stenosis	OMIM:212780
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Poland Syndrome	Aplasia of the pectoralis major muscle, Asymmetry of the thorax, Abnormal sternum morphology, Pec...	ORPHA:2911
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Microphthalmia, Atrioventricular canal defect, Short first metatarsal, Ul...	OMIM:619135
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Hypoplasia...	ORPHA:2975
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Platyspondyly, Dislocated radial head, Delayed os...	OMIM:618395
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Microphthalmia, Polymicrogyria, Ventricular septal defect, Low-set ea...	ORPHA:2328
Multiple Epiphyseal Dysplasia Type 4	Abnormal earlobe morphology, Abnormal pinna morphology, Short metacarpal, Broad femoral neck, Abn...	ORPHA:93307
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Long philtrum, Rhizomelia, Sho...	OMIM:166250
Mosaic Trisomy 1	Rocker bottom foot, Microphthalmia, Broad 2nd toe, Abnormal pinna morphology, Arachnodactyly, Lon...	ORPHA:1692
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Sensorineural hearing impairment, Broad thumb, Retinopathy, Pulmo...	ORPHA:353281
Hydrocephaly-Low Insertion Umbilicus Syndrome	Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating hydrocephalus, Patent ductu...	ORPHA:2184
Noonan Syndrome 2	Abnormal coronary artery origin, Atrioventricular canal defect, Patent foramen ovale, Cardiomyopa...	OMIM:605275
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp...	OMIM:184400
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Palpebral edema, Abnormal helix morphology, Ptosis, Ectopia lentis, Abnormality of retinal pigmen...	ORPHA:1259
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Craniolenticulosutural Dysplasia	Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Microdont...	ORPHA:50814
Achondrogenesis Type 1B	Narrow chest, Short thorax, Abnormal rib morphology, Micromelia, Frontal bossing, Micrognathia, U...	ORPHA:93298
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Sensorineural hearing impairment, Abnormal pinna morphology, Microcephaly, Syndac...	OMIM:616975
Intermediate Uveitis	Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V...	ORPHA:279914
Fg Syndrome 5	Short nose, Anteverted nares, Depressed nasal bridge	OMIM:300581
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Hyperlordosis, Pectus ex...	ORPHA:2789
Usher Syndrome, Type Ig	Sensorineural hearing impairment, Hypoplasia of the nasal bone, Abnormal vestibular function	OMIM:606943
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Coloboma, Patent foramen ovale, Low-set ears, Macrotia, Depr...	OMIM:616789
Craniofacial-Deafness-Hand Syndrome	Short nose, Sensorineural hearing impairment, Hypoplasia of the maxilla, Malar flattening, Narrow...	OMIM:122880
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Inferior cereb...	OMIM:615485
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation, Astigmatism	OMIM:300843
Trichorhinophalangeal Syndrome, Type Iii	Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Protruding ear, Supernum...	OMIM:190351
Costello Syndrome	Pulmonic stenosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse	ORPHA:3071
Cardiospondylocarpofacial Syndrome	Hypoplastic nasal tip, Congenital sensorineural hearing impairment, Dysplastic tricuspid valve, C...	OMIM:157800
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Noonan Syndrome 4	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:610733
Stickler Syndrome, Type Ii	High, narrow palate, Arachnodactyly, Micrognathia, Bifid uvula, Cleft palate, Pierre-Robin sequen...	OMIM:604841
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Hypoplasia of the corpus callosum, Macular coloboma, Retinal dystrophy, Diabetes insipidus, Senso...	ORPHA:423479
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Conical tooth, Narrow mouth, Microdontia,...	OMIM:129400
8Q22.1 Microdeletion Syndrome	Sandal gap, Finger syndactyly, Abnormality of the dentition, Hypoplasia of the maxilla, Camptodac...	ORPHA:178303
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of...	ORPHA:3440
Noonan Syndrome 12	Ventricular septal defect, Tetralogy of Fallot, Supravalvular aortic stenosis	OMIM:618624
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Anteverted nares, Scoliosis, Abnormal eyelash morphology, Aplasia/Hypoplasia of th...	ORPHA:2518
Laron Syndrome	Delayed puberty, Delayed eruption of teeth, Abnormality of the endocrine system, Depressed nasal ...	ORPHA:633
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Abnormal form of the vertebral bodies, Sensorineural ...	ORPHA:794
Congenital Disorder Of Glycosylation, Type 2V	Periventricular leukomalacia, Retrognathia, Astigmatism, Low hanging columella, Underdeveloped na...	OMIM:619493
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment	ORPHA:1861
Meier-Gorlin Syndrome 5	Slender long bone, Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the capital femoral epi...	OMIM:613805
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Mucopolysaccharidosis, Type Ii	Recurrent otitis media, Inguinal hernia, Delayed eruption of teeth, Hydrocephalus, Abnormal heart...	OMIM:309900
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Preaxial polydactyly, High palate, Bilateral talipes equinovarus, Postaxial polydac...	OMIM:618142
Phace Association	Optic atrophy, Microphthalmia, Vascular dilatation, Cerebellar hypoplasia, Aortic aneurysm, Optic...	OMIM:606519
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Retinal dystrophy	ORPHA:3156
Warburg Micro Syndrome 2	Optic atrophy, Short nose, Microphthalmia, Microcornea, Developmental cataract, Prominent nasal b...	OMIM:614225
Cardiospondylocarpofacial Syndrome	Conductive hearing impairment	ORPHA:3238
Cardiofacioneurodevelopmental Syndrome	Pulmonic stenosis, Atrioventricular canal defect, Ventricular septal defect	OMIM:619123
Timothy Syndrome	Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral...	OMIM:601005
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Cerebral calcification, Microcephaly, Hearing impairment, Abnormal...	ORPHA:858
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Small placenta, Clinodactyly of the 5th finger, Ectrodactyly, Micrognathia, Cleft pa...	ORPHA:397590
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Sensorineural hearing impairment, Death in adolescence, Death in infancy, Optic ...	OMIM:614866
Suleiman-El-Hattab Syndrome	Polydactyly, Thick lower lip vermilion, Single transverse palmar crease, High palate, Downturned ...	OMIM:618950
Neurocardiofaciodigital Syndrome	Polydactyly, Hypoplasia of the corpus callosum, Retrognathia, Narrow palpebral fissure, Double in...	OMIM:619869
Freeman-Sheldon Syndrome	Talipes equinovarus, Scoliosis, Depressed nasal ridge, Hearing impairment, Camptodactyly of finge...	ORPHA:2053
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Cleft palate, Short distal phalanx of finger, Ta...	OMIM:181180
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep...	OMIM:618652
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	2-4 toe cutaneous syndactyly, Retrognathia, Abnormality of the endocrine system, Pectus excavatum...	ORPHA:268261
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Ptosis, Oculomotor nerve palsy, Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Indomethacin Embryofetopathy	Atrial septal defect, Ventricular septal defect, Cardiomyopathy	ORPHA:1909
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, 2-3 toe syndactyly, Abnormal oral frenulum morphology, Intestinal...	ORPHA:404440
Restrictive Dermopathy	Sparse or absent eyelashes, Thoracic kyphoscoliosis, Temporomandibular joint ankylosis, Aplasia/H...	ORPHA:1662
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Hypertrophic cardiomyopathy, Ptosis, Progressive leukoencephalopathy, Dilated card...	OMIM:252011
Khan-Khan-Katsanis Syndrome	Short nose, Trichiasis, Sacral dimple, Cerebellar vermis hypoplasia, Sensorineural hearing impair...	OMIM:618460
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo...	ORPHA:52056
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari...	OMIM:608257
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Broad palm, Short finger, Small epiphyses...	OMIM:300232
Koolen-De Vries Syndrome	Aortic root aneurysm, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ...	OMIM:610443
Acrodysostosis 2 With Or Without Hormone Resistance	Anteverted nares, Short nose, Blue irides, Depressed nasal bridge	OMIM:614613
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
5Q14.3 Microdeletion Syndrome	Optic nerve hypoplasia, Short nose, Anteverted nares	ORPHA:228384
Myhre Syndrome	Microphthalmia, Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Mi...	OMIM:139210
Congenital Disorder Of Glycosylation, Type Iu	Optic atrophy, Short nose, Death in infancy	OMIM:615042
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Clinodactyly of the 5th finger, Dental crowding, High palate, Upper limb asymmetry	ORPHA:231140
Familial Bicuspid Aortic Valve	Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Hypertension, Aortic ar...	ORPHA:402075
Cataract 6, Multiple Types	Choroideremia, Developmental cataract, Posterior polar cataract	OMIM:116600
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Shallow anterior chamber, Chorioretinal coloboma, Optic disc coloboma, Flat cornea, ...	OMIM:602499
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Pulmonic stenosis, Facial telangiectasia, ...	OMIM:602782
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Chronic otitis media, Abnormal hip bone morphology, S...	ORPHA:1507
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Wide nose, Clinodactyly of the 3rd toe, ...	ORPHA:521308
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Single transverse palmar cr...	OMIM:227270
Combined Oxidative Phosphorylation Deficiency 50	Microcephaly, Adrenal insufficiency, Partial agenesis of the corpus callosum, Hip dysplasia	OMIM:619025
Ververi-Brady Syndrome	Transposition of the great arteries, Clinodactyly of the 5th finger, Wide nose, Scoliosis, Low-se...	OMIM:617982
Mandibuloacral Dysplasia	Hyperinsulinemia, Abnormally large globe, Short clavicles, Osteolytic defects of the distal phala...	ORPHA:2457
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ...	OMIM:612447
Warsaw Breakage Syndrome	Hypermelanotic macule, Clinodactyly of the 5th finger, Hypoplasia of the cochlea, Single transver...	OMIM:613398
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormal pinna morphology, A...	ORPHA:949
Coffin-Siris Syndrome 6	Low-set ears, Conductive hearing impairment, Posteriorly rotated ears	OMIM:617808
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Broad thumb, Mesomelia, Wide mouth, Umbilical hernia, Short distal phalanx of fi...	OMIM:616331
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di...	OMIM:200990
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Microphthalmia, Astigmatism, Retinal coloboma, Cataract, Bulbous nose, Wide nasal bridge	OMIM:618571
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Alagille Syndrome	Hypoplasia of the ulna, Long nose, Protruding ear, Delayed puberty, Clinodactyly of the 5th finge...	ORPHA:52
Joubert Syndrome 23	Polydactyly	OMIM:616490
Ring Chromosome 4 Syndrome	Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the...	ORPHA:1447
Mevalonic Aciduria	Cerebral atrophy, Kyphoscoliosis, Low-set ears, Optic disc pallor, Microcephaly, Downslanted palp...	OMIM:610377
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Stroke, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal de...	ORPHA:49827
17P13.3 Microduplication Syndrome	Short nose, Wide nose	ORPHA:217385
Pseudotrisomy 13 Syndrome	Microphthalmia, Microcephaly, Cyclopia, Tricuspid atresia, Encephalocele, Hydrocephalus, Polymicr...	OMIM:264480
Aneurysm-Osteoarthritis Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Arterial tortuosity, Inguinal hernia, Pat...	ORPHA:284984
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal earlobe morphology, Juxtaductal coarctation ...	ORPHA:3310
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Gingival overgrowth, Abnormality of th...	OMIM:169400
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Hearing abnormality, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ear...	ORPHA:2031
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Encephalocele, Hydrocephalus, Short long bone, Bowing of the long b...	OMIM:224400
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ...	ORPHA:1275
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities...	OMIM:619636
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Shortening of all distal phalanges of the toes, Shortening of all distal phalanges of the fingers...	OMIM:106995
Rapadilino Syndrome	Slender nose, Aplasia/Hypoplasia of the patella, Hearing impairment, Sparse eyelashes, Sparse eye...	OMIM:266280
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:618974
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Macular cotton wool spot...	ORPHA:411527
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
1P36 Deletion Syndrome	Sensorineural hearing impairment, Microtia, Kyphosis, Microcephaly, Abnormal eyebrow morphology, ...	ORPHA:1606
Trisomy 8Q	Orofacial cleft, Deep palmar crease, Non-midline cleft of the upper lip, High palate, Everted low...	ORPHA:1752
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Micrognathia, Cl...	ORPHA:440354
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Microtia, Tibial bowing, Microcephaly, Short distal phalanx...	OMIM:210720
Thoraco-Abdominal Enteric Duplication	Abnormal tricuspid valve morphology, Dextrocardia, Meningocele	ORPHA:1759
Au-Kline Syndrome	Retrognathia, Sensorineural hearing impairment, Microtia, Bifid nasal tip, Lipomyelomeningocele, ...	OMIM:616580
Methimazole Embryofetopathy	Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology	ORPHA:1923
Blepharocheilodontic Syndrome 1	Neural tube defect, Conical tooth, Anal atresia, Cleft upper lip, Hypodontia, Cutaneous syndactyl...	OMIM:119580
Craniofrontonasal Syndrome	Hypoplastic nasal tip, Bifid nasal tip, Pectus excavatum, Umbilical hernia, Axillary pterygium, S...	OMIM:304110
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn...	ORPHA:1506
Grant Syndrome	Brachycephaly, Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of the long bones, Ab...	ORPHA:2097
Myhre Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Gingival cleft, Craniofacial hyperostosis,...	ORPHA:2588
Achondroplasia	Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Thoraci...	OMIM:100800
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Cryptophthalmos, Microphthalmia, Ankyloblepharon	OMIM:123570
Miller-Dieker Syndrome	Short nose, Anteverted nares	ORPHA:531
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Persistence of primary teeth, Umbilical hernia, Atrial septal defect, V...	OMIM:619769
Takenouchi-Kosaki Syndrome	Pulmonic stenosis, Patent ductus arteriosus, Inguinal hernia, Abnormal cardiac septum morphology	OMIM:616737
Fetal Encasement Syndrome	Tetralogy of Fallot, Omphalocele	OMIM:613630
Hypomelia With Mullerian Duct Anomalies	Split hand, Postaxial hand polydactyly	OMIM:146160
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K...	ORPHA:64755
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu...	OMIM:618019
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Single naris, Inguinal hernia, Anophthalmia, Hyposmia, Anosmia, Failure of erupti...	ORPHA:2250
Joubert Syndrome 10	Conductive hearing impairment, Low-set ears	OMIM:300804
Neurocutaneous Melanocytosis	Meningocele, Dandy-Walker malformation, Cranial nerve paralysis, Death in infancy, Abnormality of...	ORPHA:2481
Pitt-Hopkins-Like Syndrome 2	Pulmonic stenosis	OMIM:614325
Trisomy 8P	Clinodactyly of the 5th toe, Retrognathia, Abnormal middle ear morphology, Clinodactyly of the 2n...	ORPHA:264450
Osteogenesis Imperfecta, Type Ix	Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Decreased calvarial ossification, Short ...	OMIM:259440
Acromicric Dysplasia	Anteverted nares, Short nose, Bulbous nose	ORPHA:969
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du...	ORPHA:1836
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Short nose, Short palpebral fissure, Highly arched ey...	ORPHA:2083
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Cerebral calcification, Pectus carinatum, Abnormal heart morphology, Optic atrophy, Deep palmar c...	ORPHA:505248
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Weiss-Kruszka Syndrome	Proximal placement of thumb, Highly arched eyebrow, Microtia, Left ventricular hypertrophy, Bicus...	OMIM:618619
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Triangular mouth, Tapered finger, Epiphyseal dysplasia, Malar flattenin...	OMIM:607131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Type II lissencephaly, Retinal a...	OMIM:236670
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Anencephaly, Hydrocephalus, Omphalocele, Pat...	OMIM:313850
Branchiootorenal Syndrome 1	Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,...	OMIM:113650
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Tbck-Related Intellectual Disability Syndrome	Sensorineural hearing impairment, Corneal opacity, Pectus excavatum, Abnormal periventricular whi...	ORPHA:488632
Orofaciodigital Syndrome X	Retrognathia, Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen...	OMIM:165590
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Meacham Syndrome	Transposition of the great arteries, Partial anomalous pulmonary venous return, Dextrocardia, Car...	OMIM:608978
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Thin vermilion border, Death in childhood, Hydrocephalus, Protruding tongue, Cleft ...	OMIM:612938
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Narrow chest, Talipes equinovarus, Palmoplantar cutis gyrata, Dislocated radial head, Flared meta...	OMIM:130070
Bardet-Biedl Syndrome 17	Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda...	OMIM:615994
Baker-Gordon Syndrome	Short nose, Prominent nasal tip	OMIM:618218
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Abnormal peripheral nerve morphology by anatomical site,...	ORPHA:88628
Mosaic Trisomy 8	Deep palmar crease, Clinodactyly of the 5th finger, Narrow chest, Abnormal antihelix morphology, ...	ORPHA:96061
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ventric...	OMIM:610759
Linear Verrucous Nevus Syndrome	Aplasia/Hypoplasia of the fovea, Dandy-Walker malformation, Scoliosis, Short metacarpal, Abnormal...	ORPHA:2611
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cubitus valgus, Mandibular prognathia, High palate, Furrowed tongue, Short foot, Hypoplasia of th...	OMIM:300534
Codas Syndrome	Short nose, Midline defect of the nose, Anteverted nares, Cataract, Depressed nasal bridge	ORPHA:1458
Marshall Syndrome	Small proximal tibial epiphyses, Sensorineural hearing impairment, Calcification of falx cerebri,...	OMIM:154780
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Sensorineural hearing impairment, C...	OMIM:608670
Larsen-Like Syndrome	Conductive hearing impairment, Recurrent otitis media, Low-set ears	OMIM:608545
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Anteverted nares, Abnormal pinna morphology, Hypoplasia of the maxilla, Posteriorly rotated ears,...	ORPHA:228396
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Death in childhood, Hypoplasia of the ciliary body, Retinal...	OMIM:609049
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Microcephaly, Absent thumb, Primary congenital gla...	OMIM:105650
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Straight clavicles, Short clavicles, Short metacarpal, Br...	OMIM:113300
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Short philtrum, Hydrocephalus, Mandibular prognathia, Everted lower lip vermilion,...	OMIM:601499
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Crystalline corneal dystroph...	ORPHA:41751
Juvenile Paget Disease	Optic atrophy, Abnormal clavicle morphology, Pectus carinatum, Bowing of the long bones, Hearing ...	ORPHA:2801
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Menke-Hennekam Syndrome 1	Sandal gap, Short ear, Prominent inferior crus of antihelix, Umbilical hernia, Overlapping toe, I...	OMIM:618332
Chromosome Xp11.23-P11.22 Duplication Syndrome	2-3 toe cutaneous syndactyly, Medial flaring of the eyebrow, Synophrys, Precocious puberty, Downs...	OMIM:300801
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Braddock-Carey Syndrome 2	Retrognathia, Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly	OMIM:619981
Nevus Comedonicus Syndrome	Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly	ORPHA:64754
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Orofaciodigital Syndrome I	Radial deviation of finger, Myelomeningocele, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ...	OMIM:311200
Renpenning Syndrome	Abnormal thumb morphology, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Pect...	ORPHA:3242
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Thin vermilion border, High palate, Tapered finger, Anal atresia, Postaxial polydac...	OMIM:613792
Cataract 3, Multiple Types	Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract	OMIM:601547
Warburg Micro Syndrome 3	Optic atrophy, Short nose, Microphthalmia, Microcornea, Shallow anterior chamber, Developmental c...	OMIM:614222
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ...	OMIM:617604
Holoprosencephaly 14	Aqueductal stenosis, Aortic valve atresia, Hydrocephalus, Alobar holoprosencephaly, Holoprosencep...	OMIM:619895
Clark-Baraitser Syndrome	Anteverted nares, Short nose, Depressed nasal bridge, Low hanging columella	OMIM:617752
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Hemivertebrae, Low-s...	ORPHA:2180
Glutamine Deficiency, Congenital	Short nose, Anteverted nares, Neonatal death, Wide nasal bridge, Depressed nasal bridge	OMIM:610015
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Short ribs, Tibial bowing, Sho...	OMIM:304120
Roberts Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Radial deviation of finger, Mesomelic...	ORPHA:3103
Lateral Meningocele Syndrome	Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Short nasal bridge, Umbilical hernia, Bic...	OMIM:130720
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, Oligodontia, 2-3 toe s...	ORPHA:37553
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Distal Xq28 Microduplication Syndrome	Thick lower lip vermilion, Dental crowding, Short lingual frenulum, High palate, Hypoplasia of th...	ORPHA:293939
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Coarctation of aorta, Ventricular septal defect	OMIM:620210
Scalp-Ear-Nipple Syndrome	Palpebral edema, Telecanthus, Delayed eruption of teeth, Abnormal antihelix morphology, Small ear...	ORPHA:2036
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Patent ductus arteriosus, Tachycardia, Atrial septal defect, Ventricular septal defect	OMIM:613870
Arthrogryposis, Distal, Type 3	Single transverse palmar crease, High palate, Ulnar deviation of the hand or of fingers of the ha...	OMIM:114300
Baraitser-Winter Syndrome 1	Short nose, Microphthalmia, Anteverted nares, Chorioretinal coloboma, Wide nasal bridge, Iris col...	OMIM:243310
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Abnormal ethmoid bone morphology, Meningocele...	ORPHA:101030
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Crouzon Syndrome	Midface retrusion, Deviated nasal septum, Hydrocephalus, Mandibular prognathia, Atresia of the ex...	OMIM:123500
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Secondary microcephaly, Short palpebral fissure, Low hanging columella, Pectus carinatum, Scolios...	OMIM:300986
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda...	OMIM:617866
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ...	OMIM:187760
Treacher Collins Syndrome 1	Bilateral microphthalmos, Upper eyelid coloboma, Microtia, Choanal atresia, Atresia of the extern...	OMIM:154500
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Abnormal metaphysis morphology, Esophageal atresia, Abnormal pelvis bone ossificat...	ORPHA:93271
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Genu valgum, Arteriovenous malformation, Retinal detachment, Pectus carinatum, Sco...	ORPHA:394
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Pericardial And Diaphragmatic Defect	Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicusp...	ORPHA:2847
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Aplasia/Hypoplasia of the cerebellum, Pigmentary retinopathy	ORPHA:1178
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Low-set ears, Short metacarpal, Cafe-au-lait spot, Macrotia, ...	OMIM:250410
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	OMIM:613835
Kyphomelic Dysplasia	Tibial bowing, Femoral bowing, Flat acetabular roof, Short metacarpal, Short humerus, Thoracic hy...	OMIM:211350
Neurofibromatosis Type 1	Delayed puberty, Abnormal hip bone morphology, Spinal neurofibroma, Abnormality of the endocrine ...	ORPHA:636
Microphthalmia, Syndromic 16	Ankyloblepharon, Microphthalmia, Sclerocornea, Anophthalmia	OMIM:611038
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Male hypogonadism, Hypoparathyroidism, Keratoconjunctivitis, Female hypogonadism, Hypothyroidism,...	OMIM:240300
Developmental And Epileptic Encephalopathy 75	Optic atrophy, Short nose, Anteverted nares, Wide nasal bridge, Optic disc pallor	OMIM:618437
Meacham Syndrome	Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous...	ORPHA:3097
Microcephaly 3, Primary, Autosomal Recessive	Sensorineural hearing impairment, Mixed hearing impairment	OMIM:604804
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Encephalocele, Telecanthus, Anteverted nares, Low-set ears, Bifid nose, Depressed...	ORPHA:228390
Arterial Tortuosity Syndrome	Pectus carinatum, Ventricular hypertrophy, Aortic tortuosity, Pectus excavatum, Aortic valve sten...	OMIM:208050
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Broad ribs, Absent paranasal sinuse...	OMIM:224300
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Long nose, Short nose, Decreased response to growth hormone stimulation test, Sh...	OMIM:615866
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos...	ORPHA:2522
Atelis Syndrome 2	Pulmonic stenosis, Vitreous hemorrhage, Supravalvar pulmonary stenosis, Patent ductus arteriosus	OMIM:620185
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Anteverted nares, Microtia, Neonatal death, Underdeveloped nasal alae	OMIM:612138
Congenital Heart Defects And Skeletal Malformations Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Sandal gap, Dental crowding, High palate, ...	OMIM:617602
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Inguinal hernia, Pulmonary arterial hypertension, Pulmonic stenosis, Secundum atrial septal defec...	OMIM:612541
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ...	OMIM:603543
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu...	OMIM:602111
Restrictive Dermopathy 2	Short clavicles, Overtubulated long bones, Hypoplastic facial bones, Microretrognathia, Convex na...	OMIM:619793
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal pinna morphology, Thoracic kyphoscoliosis, Pectus excavatum, Arterial dissection, Mitral...	ORPHA:1900
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Zimmermann-Laband Syndrome 1	Highly arched eyebrow, Short distal phalanx of toe, Cardiomyopathy, Umbilical hernia, Short dista...	OMIM:135500
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Inguinal hernia, Choanal atresia, Abnormality of the sense of smell, Hypogonadotr...	ORPHA:1135
Coffin-Siris Syndrome 4	Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Patent ductus arteriosus, Atrial sep...	OMIM:614609
Brachydactyly Type A1	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall...	ORPHA:93388
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Short nose, Genu valgum, Retinal dystrophy, Hydrocephalus, Optic nerve hypoplasia,...	OMIM:619321
Stromme Syndrome	Stillbirth, Preaxial polydactyly, Iris coloboma, Microphthalmia, Hydrocephalus, Optic nerve hypop...	OMIM:243605
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Mixed hearing impairment, Cerebral calcification, Sensorineural heari...	ORPHA:51608
Faundes-Banka Syndrome	Delayed puberty, Long ear, Flexion contracture of toe, Broad eyebrow, Lumbar hemivertebrae, Micro...	OMIM:619376
Greenberg Dysplasia	Retrognathia, Short long bone, Short ribs, Short metacarpal, Mesomelia, Hypoplastic vertebral bod...	OMIM:215140
Chromosome 3Q29 Duplication Syndrome	Short nose, Bulbous nose, Wide nasal bridge	OMIM:611936
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Short nose	OMIM:618506
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Pigmentary retinopathy	OMIM:609016
Neurofaciodigitorenal Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Mandibular prognathia, Abnormality of the ph...	ORPHA:2673
17Q24.2 Microdeletion Syndrome	Abnormality of the wrist, Cubitus valgus, Recurrent otitis media, Upper limb undergrowth, Otoscle...	ORPHA:529962
Spondylocostal Dysostosis 4, Autosomal Recessive	Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Hyd...	OMIM:613686
Cataract 16, Multiple Types	Lenticonus, Developmental cataract, Retinal dystrophy, Posterior polar cataract	OMIM:613763
Loeys-Dietz Syndrome 3	Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm...	OMIM:613795
Camurati-Engelmann Disease	Delayed puberty, Abnormal femur morphology, Hyperlordosis, Kyphosis, Hypogonadism, Craniofacial o...	ORPHA:1328
Vitreoretinochoroidopathy	Microphthalmia, Vitreous hemorrhage, Retinal detachment, Microcornea, Abnormality of chorioretina...	OMIM:193220
Osteogenesis Imperfecta, Type I	Hearing impairment, Otosclerosis	OMIM:166200
Renpenning Syndrome 1	Microphthalmia, Pectus excavatum, Microcephaly, Scoliosis, Camptodactyly, Hearing impairment, Spa...	OMIM:309500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Conductive hearing impairment	OMIM:601076
Traboulsi Syndrome	Convex nasal ridge, Microphthalmia, Spherophakia, Wide nose, Phakodonesis, Iris atrophy, Prominen...	OMIM:601552
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Anteverted nares, Choanal atresia, Neonatal death, Choanal...	OMIM:619859
Immunodeficiency 10	Amelogenesis imperfecta, Recurrent otitis media, Hypohidrosis, Hypoplasia of the iris	OMIM:612783
Verloove Vanhorick-Brubakk Syndrome	Abnormal femur morphology, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Craniorachischisis	Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Omphalocele, Spinal dysraphism, Cervic...	ORPHA:63260
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor...	OMIM:620642
Fanconi Anemia, Complementation Group S	Microphthalmia, Proximal placement of thumb, Blepharophimosis, Anteverted nares, Long eyelashes, ...	OMIM:617883
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Short long bone, Brachydactyly	OMIM:615633
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Supernumerary tooth, Juvenile cataract, Abnormality of retinal pigmentat...	ORPHA:1264
Hec Syndrome	Developmental cataract, Abnormal pupil morphology, Abnormal retinal vascular morphology	ORPHA:2119
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Genu valgum, Platyspondyly, Short thorax, Pectus carinatum, Scoli...	ORPHA:582
Nabais Sa-De Vries Syndrome, Type 1	Short nose, Optic nerve hypoplasia, Prominent nasal bridge, Bulbous nose, Depressed nasal bridge	OMIM:618828
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Werner Syndrome	Rocker bottom foot, Premature graying of hair, Thyroid carcinoma, Miscarriage, Pulmonary artery s...	ORPHA:902
Meier-Gorlin Syndrome 1	Microdontia, Death in infancy, Genu varum, Coxa valga, Camptodactyly, Flat glenoid fossa, Short p...	OMIM:224690
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Long eyelashes, Microcephaly, Hypothyroidi...	ORPHA:3363
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Low hanging columella, Delayed eruption of teeth, Anteverted nares, Scoliosis, Highly arched eyeb...	OMIM:618825
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
Monosomy 13Q34	Pulmonic stenosis, Common atrium, Epistaxis, Hematochezia	ORPHA:96168
Campomelia, Cumming Type	Bowing of the long bones, Abnormal rib morphology, Micromelia, Aplasia/Hypoplasia affecting the e...	ORPHA:1318
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Short philtrum, Dental crowding, Hyperextensibility of the finger joints, High palate, Hypoplasia...	OMIM:309520
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Progressive microcephaly, Pectus carinatum, Thoracic kyphoscoliosis, Broad thumb, Arachnodactyly,...	ORPHA:481152
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Oculocerebral Hypopigmentation Syndrome, Cross Type	Short nose, Anteverted nares, Corneal opacity, Choroideremia, Aplasia/Hypoplasia affecting the ey...	ORPHA:2719
Leprosy	Abnormal seventh cranial physiology, Abnormality of the adrenal glands, Iritis, Abnormal facial s...	ORPHA:548
Edict Syndrome	Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris	OMIM:614303
Retinitis Pigmentosa	Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Hyperinsu...	ORPHA:791
Rhombencephalosynapsis	Polydactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Finger syndactyly, Narrow ...	ORPHA:59315
Cadds	Cataract, Short nose	ORPHA:369942
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Alg9-Cdg	Narrow greater sciatic notch, Low insertion of columella, Progressive microcephaly, Hypoplasia of...	ORPHA:79328
7Q31 Microdeletion Syndrome	Short palpebral fissure, Childhood onset sensorineural hearing impairment, Clinodactyly of the 2n...	ORPHA:251061
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Death in infancy, Neonatal de...	OMIM:613390
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Turricephaly, Crumpled long bones, Abnormal form of the vertebral...	ORPHA:2050
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Pulmonic stenosis, Secundum atrial septal defect	OMIM:615802
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Cdags Syndrome	Ectropion, Short clavicles, Sensorineural hearing impairment, Short ribs, Kyphosis, Sparse eyelas...	OMIM:603116
Aase-Smith Syndrome I	Hydrocephalus, Slender finger, Death in infancy, Cleft palate, Open mouth, Talipes equinovarus	OMIM:147800
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic...	ORPHA:364055
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Short nose, Slender nose	OMIM:615419
Cutis Laxa, Autosomal Recessive, Type Iiib	Developmental glaucoma, Inguinal hernia, Narrow nasal ridge, Prominent ear helix, Elbow flexion c...	OMIM:614438
Retinitis Pigmentosa 14	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal arteriolar const...	OMIM:600132
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Platyspondyly, Flared metaphysis, Short ribs, Low-set ears, Decreased fibular diam...	OMIM:616897
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Synophrys, Downslanted palpebral fissures, Depressed nasal bridge, Thi...	ORPHA:2025
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Low-set ear...	ORPHA:2759
Ogden Syndrome	Left atrial enlargement, Bilateral ptosis, Sandal gap, Bifid nasal tip, Pectus excavatum, Microce...	OMIM:300855
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Intellectual Developmental Disorder, Autosomal Dominant 72	Low-set ears, Spina bifida, Uplifted earlobe, Posteriorly rotated ears, Overfriendliness, Bulbous...	OMIM:620439
Peters Plus Syndrome	Corneal opacity, Pulmonic stenosis, Microcephaly, Umbilical hernia, Anterior chamber synechiae, A...	ORPHA:709
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri...	OMIM:619910
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Aqueductal stenosis, Tibial bowing, Bowing of the long bones, Abnorma...	ORPHA:3035
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Oculoskeletodental Syndrome	Hearing impairment, Sensorineural hearing impairment, Conductive hearing impairment	ORPHA:557003
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Valvular pulmonary stenosis, Spina bifida occulta, Patent foramen ovale, Bicuspid aortic valve, A...	OMIM:300707
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Metatarsus adductus, Broad thumb, M...	ORPHA:2249
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, High...	ORPHA:93259
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short long bone...	OMIM:613091
Igg4-Related Aortitis	Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort...	ORPHA:449400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polydactyly, Syndactyly, Smooth philtrum	OMIM:602501
Absence Of The Pulmonary Artery	Right aortic arch, Truncus arteriosus, Abnormal inferior vena cava morphology, Patent foramen ova...	ORPHA:980
Zimmermann-Laband Syndrome 2	Sensorineural hearing impairment, Bifid nasal tip, Kyphosis, Long eyelashes, Synophrys, Prominent...	OMIM:616455
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Intellectual Developmental Disorder, Autosomal Recessive 5	Telecanthus, Blepharophimosis, 4-5 toe syndactyly, Microcephaly, Synophrys, Prominent nasal bridg...	OMIM:611091
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Amelogenesis imperfecta, Hypoplasia of the iris, Anhidrosis, Hypocalcificat...	ORPHA:169090
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Abnormal rib morphology, Micromelia, Decreased calvarial ossif...	ORPHA:2772
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose	ORPHA:2598
Noonan Syndrome 14	Pulmonic stenosis, Hypertrophic cardiomyopathy, Aortic regurgitation, Mitral valve prolapse	OMIM:619745
Teebi-Shaltout Syndrome	Rocker bottom foot, Microphthalmia, Highly arched eyebrow, Small earlobe, Pectus carinatum, Pectu...	OMIM:272950
Frontometaphyseal Dysplasia 1	Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Arachnodactyly, Increa...	OMIM:305620
Multiple Mitochondrial Dysfunctions Syndrome 5	Microcephaly, Pachygyria, Pigmentary retinopathy	OMIM:617613
Agnathia-Otocephaly Complex	Synotia, Conductive hearing impairment, Low-set ears	OMIM:202650
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Short nose, Microphthalmia, Anteverted nares, Microcornea, Keratoconjunctivitis sicca	OMIM:234050
Simosa Craniofacial Syndrome	Long nose, Hearing abnormality, Inguinal hernia, Telecanthus, Highly arched eyebrow, Blepharophim...	OMIM:182150
Holzgreve Syndrome	Turricephaly, Abnormal metacarpal morphology, Low-set, posteriorly rotated ears, Abnormally ossif...	ORPHA:2167
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Pulmonic stenosis, Multiple muscular ventricular septal defects	OMIM:615508
Joubert Syndrome 3	Thin corpus callosum, Retinal dystrophy, Cerebellar vermis hypoplasia, Anteverted nares, Highly a...	OMIM:608629
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Hyperintensity of cerebral white matter on MRI, Abnormality of globe size, Scoliosis, Pectus exca...	ORPHA:502423
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Microtia, Micrognathia, Anotia, Conotruncal defect	OMIM:243440
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Stenosis of the external auditory canal, Microtia, Abnormal a...	ORPHA:2878
Brittle Cornea Syndrome 1	Red hair, Spondylolisthesis, Keratoglobus, Keratoconus, Decreased corneal thickness, Scoliosis, C...	OMIM:229200
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Microphthalmia, Decreased response to growth hormone stimulation test, ...	OMIM:603467
Loeys-Dietz Syndrome 2	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:610168
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Shprintzen-Goldberg Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Microcep...	ORPHA:2462
Three M Syndrome 2	Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Pr...	OMIM:612921
Holoprosencephaly 2	Microphthalmia, Microcephaly, Aplasia of the nasal bone, Cyclopia, Proboscis, Anterior pituitary ...	OMIM:157170
Atelosteogenesis Type Ii	Sandal gap, Bilateral cleft palate, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, L...	ORPHA:56304
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Stroke, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular sep...	OMIM:249270
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia, Cervical ribs	ORPHA:66630
Lowry-Wood Syndrome	Astigmatism, Irregular epiphyses, Platyspondyly, Dislocated radial head, Coxa vara, Epiphyseal dy...	ORPHA:1824
Gorlin Syndrome	Brachycephaly, Orofacial cleft, Abnormal vertebral morphology, Palmar pits, Hydrocephalus, Verteb...	ORPHA:377
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Finger clinodactyly, Mesoaxial polydactyly, High palate, Central Y-shaped m...	ORPHA:2754
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Orofaciodigital Syndrome V	Aganglionic megacolon, Sandal gap, High palate, Postaxial hand polydactyly, Ankyloglossia, Postax...	OMIM:174300
Xylt1-Cdg	Flared metaphysis, Short clavicles, Short long bone, Synophrys, Broad thumb, Microcephaly, Short ...	ORPHA:370930
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Astigmatism, Retinal pigment epithelial mottling	OMIM:300814
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Hypoplastic pelvis, Mi...	ORPHA:85166
Frontometaphyseal Dysplasia	Limited elbow movement, Mixed hearing impairment, Dislocated radial head, Sensorineural hearing i...	ORPHA:1826
Eem Syndrome	Macular dystrophy, Finger syndactyly, Ectrodactyly, Absent eyebrow, Retinopathy, Carious teeth, A...	ORPHA:1897
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Focal T2 hyperintense basal ganglia lesion, Optic disc pallor, Abnormal heart m...	ORPHA:79264
Isolated Cleft Lip	Chronic otitis media, Conductive hearing impairment, Abnormal Eustachian tube morphology	ORPHA:199302
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency	OMIM:262700
Pallister-Hall Syndrome	Microphthalmia, Mesoaxial polydactyly, Microtia, Oligodactyly, Thyroid hypoplasia, Broad thumb, U...	ORPHA:672
Orofaciodigital Syndrome Xix	Retrognathia, Cupped ear, Bifid nasal tip, Thick nasal alae, Postaxial hand polydactyly, Type A b...	OMIM:620107
Hallermann-Streiff Syndrome	Microphthalmia, Short ribs, Microcephaly, Rib exostoses, Choanal atresia, Sparse eyelashes, Devel...	ORPHA:2108
Isotretinoin Syndrome	Micrognathia, Cleft palate, Spina bifida occulta	ORPHA:2305
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Retrognathia, Corneal opacity, Atlantoaxial abnormality, Pulmonic stenosis, Conge...	ORPHA:3455
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Pectus c...	ORPHA:3068
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef...	OMIM:115197
Diabetes And Deafness, Maternally Inherited	Sensorineural hearing impairment, Vertigo, Abnormal vestibular function, Cardiomyopathy, Ptosis, ...	OMIM:520000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short nose, Bilateral microphthalmos, Ocular anterior segment dysgenesis, Bulbous nose, Wide nasa...	ORPHA:369891
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Type II diabetes mellitus	ORPHA:2579
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Abnormality of the hand, Hypoplasia of the radius, Aplasia/hypoplasia inv...	ORPHA:75508
Joubert Syndrome 16	Polydactyly	OMIM:614465
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Microphthalmia	ORPHA:2547
Aortic Aneurysm, Familial Thoracic 10	Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,...	OMIM:617168
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of t...	OMIM:209885
Tetrasomy 12P	Abnormal soft palate morphology, Delayed eruption of teeth, Everted lower lip vermilion, Anal atr...	ORPHA:884
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Short nose, Wide nasal bridge	OMIM:618577
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperinsulinemia, Narrow nasal ridge, Short clavicles, Elbow flexion contracture, Osteolytic defe...	OMIM:248370
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Autism, Susceptibility To, X-Linked 6	Ptosis, Underdeveloped nasal alae	OMIM:300872
Brachycephaly, Trichomegaly, And Developmental Delay	Conductive hearing impairment, Low-set ears, Overfolded helix	OMIM:617412
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Hyperplasia of the maxilla, Recurrent otitis media, Abnormal E...	ORPHA:513456
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Clubbing of fingers, Hydrocephalus, Hypoplastic pubic bone, Miscarriage, Short lon...	ORPHA:1865
Arterial Tortuosity Syndrome	Abnormal carotid artery morphology, Rocker bottom foot, Keratoglobus, Arachnodactyly, Coxa valga,...	ORPHA:3342
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Microtia, Pectus excavatum, Hip disl...	OMIM:613458
Fibrodysplasia Ossificans Progressiva	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:135100
Proteus Syndrome	Macrodactyly, Irregular hyperpigmentation, Arteriovenous malformation, Asymmetry of the thorax, A...	ORPHA:744
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Microtia	OMIM:168550
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Hydrocephalus, Single transverse palmar crease, Histiocytoid cardiomyopathy, Vent...	OMIM:309801
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Clubbing of fingers, Broad phalanx of the toes, Low-set ears, Broad thu...	ORPHA:79076
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Abnormality iris morph...	ORPHA:370959
Craniofaciofrontodigital Syndrome	Congestive heart failure, Abnormal cerebral vascular morphology, Dilatation of the cerebral arter...	ORPHA:363705
Craniodigital-Intellectual Disability Syndrome	Short nose, Narrow nasal bridge	ORPHA:1514
Osteogenesis Imperfecta, Type X	Genu valgum, Fibular bowing, Rhizomelia, Inguinal hernia, Narrow chest, Vertebral compression fra...	OMIM:613848
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Short hallux, Single transverse palmar crease, High palate, Abnormality...	OMIM:608156
Down Syndrome	Bilateral single transverse palmar creases, Delayed puberty, Sandal gap, Round ear, Umbilical her...	ORPHA:870
Trichohepatoenteric Syndrome 1	Large placenta, Aortic regurgitation, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal ...	OMIM:222470
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Abnormality of the upper limb, Corneal opacity, Microcephaly, Aplasia/Hypoplasia ...	ORPHA:1052
Syngap1-Related Developmental And Epileptic Encephalopathy	Thin vermilion border, Narrow mouth, High palate, Postaxial polydactyly, Wide mouth	ORPHA:544254
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid nasal tip, Pectus excavatum, Impacted tooth, Agenesis of i...	OMIM:211380
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormal circulating calcium-phosphate regulating hormone concentration, Inguin...	ORPHA:2196
Pheochromocytoma/Paraganglioma Syndrome 1	Conductive hearing impairment, Pulsatile tinnitus	OMIM:168000
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Clinodactyly of the 5th finger, Mandibular prognathia, Prominent fingertip pads, Bro...	OMIM:619721
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Adrenocorticotropin receptor defect, Orthostatic hypotension, Hyperpigmentation of...	OMIM:231550
Stickler Syndrome	Chronic otitis media, Spondylolisthesis, Abnormal form of the vertebral bodies, Sensorineural hea...	ORPHA:828
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Microphthalmia, Palmar pits, Abnormality of the vertebral column, H...	ORPHA:77301
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventricular septal defect, Patent ductus arteriosus	OMIM:218350
Perlman Syndrome	Anteverted nares, Short nose, Wide nasal bridge	ORPHA:2849
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Short nose, Retinal detachment, Cataract, Depressed nasal bridge	OMIM:619833
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Rod-cone dystrophy, Pigmentary retinopathy, Hypergonadotropic hypogonadism	OMIM:614307
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:613443
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Umbilical hernia, Abnormal heart morphology, Patent ductus arteriosus, Bicu...	ORPHA:500159
Kabuki Syndrome	Abnormal form of the vertebral bodies, Highly arched eyebrow, Sensorineural hearing impairment, M...	ORPHA:2322
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Bilateral ptosis, Scoliosis, Cardiomyopathy, Hearing impairment, Pigmentary retinopathy	ORPHA:329336
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Mitral regurgitation	OMIM:301039
Radio-Tartaglia Syndrome	Tremor, Low-set ears, Hearing impairment, Conductive hearing impairment, Large earlobe	OMIM:619312
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Chorioretinal coloboma	ORPHA:163961
Leigh Syndrome	Optic atrophy, Sensorineural hearing impairment, Focal substantia nigra T2 hyperintensity, Hepato...	OMIM:256000
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hearing impairment, Micrognathia, Hypoplasia of the maxilla	OMIM:301108
Chung-Jansen Syndrome	Anteverted nares, Short nose	OMIM:617991
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Short nose, Prominent nasal bridge	OMIM:300558
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot p...	OMIM:612284
46,Xx Sex Reversal 5	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:618901
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Hurler Syndrome	Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:93473
Joubert Syndrome 28	Pigmentary retinopathy, Highly arched eyebrow, Wide nasal bridge, Optic disc pallor	OMIM:617121
Tenosynovial Giant Cell Tumor	Conductive hearing impairment, Abnormal tympanic membrane morphology, Abnormal auditory canal mor...	ORPHA:66627
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Dystonia, Choreoathetosis	ORPHA:261197
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect...	OMIM:114290
Poikiloderma With Neutropenia	Short nose, Retrognathia, Recurrent otitis media, Sparse lateral eyebrow, Reticular hyperpigmenta...	OMIM:604173
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Microcephaly, Syndactyly, Cervical...	OMIM:148050
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Turricephaly, Cone-shaped epiphyses of the phalanges of the hand, S...	OMIM:250220
Cebalid Syndrome	Anteverted nares, Short nose, Depressed nasal bridge, Depressed nasal ridge	OMIM:618774
Watson Syndrome	Pulmonic stenosis	OMIM:193520
Odontochondrodysplasia	Short nose, Depressed nasal bridge, Death in infancy	ORPHA:166272
Wolcott-Rallison Syndrome	Central hypothyroidism, Microcephaly, Hypothyroidism, Metaphyseal dysplasia, Exocrine pancreatic ...	ORPHA:1667
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Prominent nasal bridge, Broad nasal tip	OMIM:613544
Retinitis Pigmentosa 46	Posterior subcapsular cataract, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone...	OMIM:612572
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Rhyns Syndrome	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:602152
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Wrist flexion contr...	ORPHA:800
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Sensorineural hearing impairm...	OMIM:610651
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe...	OMIM:620066
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract infections	OMIM:614069
Zttk Syndrome	Kyphosis, Cervical ribs, Optic atrophy, Scoliosis, Hemivertebrae, Downslanted palpebral fissures,...	OMIM:617140
Trigonocephaly 1	Short nose, Wide nasal bridge	OMIM:190440
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Bulbous nose, Wide nasal bridge	OMIM:620292
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Short nose, Bulbous nose, Wide nasal bridge	OMIM:613604
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Neonatal death, Finger aplasia	OMIM:276822
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Broad nasal tip, Wide nasal bridge	OMIM:615716
Ehlers-Danlos Syndrome, Classic Type, 1	Bowel diverticulosis, Hyperextensibility of the finger joints, Irregularly spaced teeth, Recurren...	OMIM:130000
Leopard Syndrome 1	Spina bifida occulta, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Bund...	OMIM:151100
Ulnar Hypoplasia-Split Foot Syndrome	Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna	ORPHA:1122
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Corneal opacity, F...	OMIM:253200
Usher Syndrome	Astigmatism, Abnormality of dental color, Sensorineural hearing impairment, Abnormal dental ename...	ORPHA:886
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic pulmonary valve, Ventricular septal defect	OMIM:619103
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Inguinal hernia, Patent foramen ovale, Umbilical hernia, Patent ductus arteriosus, Bicuspid aorti...	ORPHA:329224
13Q12.3 Microdeletion Syndrome	Chronic otitis media, Kyphoscoliosis, Low insertion of columella, Upper eyelid edema, Camptodacty...	ORPHA:412035
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Inguinal hernia	OMIM:314320
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Microphthalmia, Abnormal pinna morphology, Short ribs, Short long b...	OMIM:617925
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Osteogenesis Imperfecta	Mixed hearing impairment, Abnormal femur morphology, Abnormal hip bone morphology, Abnormal form ...	ORPHA:666
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ...	OMIM:613581
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling	OMIM:551500
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cataract, Short nose, Narrow nasal bridge	ORPHA:544503
Saethre-Chotzen Syndrome	Long nose, Microtia, Partial duplication of the distal phalanx of the 2nd finger, Shallow orbits,...	OMIM:101400
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Retrognathia, Descending thoracic aorta aneurysm, Abnormal sternum morphology, Arachnodactyly, De...	ORPHA:91387
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Axial Mesodermal Dysplasia Spectrum	Abnormal form of the vertebral bodies, Hydrocephalus, Microtia, Scoliosis, Vertebral segmentation...	ORPHA:1834
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Wide nose, Depressed nasal ridge	ORPHA:2831
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,...	OMIM:602196
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Pectus...	OMIM:261540
Czeizel-Losonci Syndrome	Hypoplastic helices, Low-set, posteriorly rotated ears, Spina bifida occulta, Hydrocephalus, Myel...	ORPHA:2437
Lethal Congenital Contracture Syndrome Type 1	Abnormal hip bone morphology, Low-set, posteriorly rotated ears, Slender long bone, Abnormal form...	ORPHA:1486
Loeys-Dietz Syndrome 4	Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Aortic tortuos...	OMIM:614816
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At...	OMIM:600987
Osteogenesis Imperfecta, Type Iii	Slender long bone, Thin ribs, Tibial bowing, Scoliosis, Kyphosis, Hearing impairment, Biconcave v...	OMIM:259420
Baller-Gerold Syndrome	Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Narrow nasal bridge, Apla...	ORPHA:1225
Jalili Syndrome	Bone spicule pigmentation of the retina, Yellow-brown discoloration of the teeth, Cone/cone-rod d...	OMIM:217080
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Clinodactyly of the 5th finger, Abnormality of the hypothalamus-pituitary axis, Ab...	ORPHA:1173
Sporadic Pheochromocytoma/Secreting Paraganglioma	Conductive hearing impairment, Paroxysmal vertigo, Tremor, Pulsatile tinnitus	ORPHA:276621
Kearns-Sayre Syndrome	Hearing impairment, Abnormality of retinal pigmentation, Anterior hypopituitarism, Progressive in...	ORPHA:480
Autosomal Recessive Spastic Paraplegia Type 15	Hypoplasia of the corpus callosum, Yellow/white lesions of the retina, Peripheral axonal neuropat...	ORPHA:100996
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Foot polydactyly, Phocomelia, Split hand	ORPHA:3004
Autosomal Recessive Omodysplasia	Anteverted nares, Short nose, Depressed nasal bridge, Pterygium	ORPHA:93329
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Interictal epileptiform activity, Bilateral conductive hearing impairment, Low-set ears	OMIM:617802
Autoimmune Polyendocrinopathy Type 1	Hypopigmented skin patches, Abnormal circulating calcium-phosphate regulating hormone concentrati...	ORPHA:3453
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Inguinal hernia	ORPHA:3369
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Joint contracture of the hand, Deep palmar crease, Clinodactyly of the 5th finger, D...	OMIM:247200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Microtia, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in...	OMIM:210710
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Abnormal vertebral morphology, Abnormal rib morphology	ORPHA:280195
Microform Holoprosencephaly	Short nose, Cyclopia, Maternal diabetes, Narrow nasal bridge, Anteverted nares, Scoliosis, Panhyp...	ORPHA:280200
White-Kernohan Syndrome	Retrognathia, Anteverted nares, Horizontal eyebrow, Hip dysplasia, Broad medial eyebrow, Depresse...	OMIM:619426
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Cataract, Abnormal rib morphology, Brachydactyly	ORPHA:2643
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Stenosis of the external au...	OMIM:606164
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Microphthalmia, Astigmatism, Thick nasal alae, Ectopia pupillae, Cataract, Wide na...	OMIM:618727
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Spondylolisthesis, Inguinal hernia, Craniosynostosis, Scoliosis, Short lo...	OMIM:252600
Adams-Oliver Syndrome	Periventricular leukomalacia, Microphthalmia, Arteriovenous malformation, Abnormal metacarpal mor...	ORPHA:974
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Microcephaly, Attenuation of retinal blood vessels...	OMIM:300578
Raine Syndrome	Hydrocephalus, Mandibular prognathia, Gingival overgrowth, High palate, Narrow mouth, Microdontia...	OMIM:259775
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Astigmatism, Pigmentary retinopathy	OMIM:268060
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Inguinal hernia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial sep...	OMIM:607721
Bainbridge-Ropers Syndrome	Long nose, Low hanging columella, Cerebellar vermis hypoplasia, Highly arched eyebrow, Scoliosis,...	ORPHA:352577
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge	ORPHA:250999
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Talipes equinovarus, Inguinal hernia, Finger syndactyly, Scoliosis, Pectus excavat...	ORPHA:2215
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal ethmoid bone morphology, Genu valgum, Delayed pubic bone ossification, Metaphyseal scler...	ORPHA:2976
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose	OMIM:619854
Myoectodermal Gonadal Dysgenesis Syndrome	Hypoplasia of the lacrimal punctum, Highly arched eyebrow, Sensorineural hearing impairment, Bifi...	OMIM:618419
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Meier-Gorlin Syndrome 6	Delayed puberty, Sandal gap, Microtia, Microcephaly, Umbilical hernia, Decreased response to grow...	OMIM:616835
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Tented upper lip vermilion, Smooth philtrum, Brachydactyly, Clino...	ORPHA:313781
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Anteverted nares, Short nose, Depressed nasal bridge, Short columella	ORPHA:171839
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short nose, Death in childhood, Wide nose, Anteverted nares, Death in infancy, Depressed nasal br...	OMIM:613320
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus	OMIM:617751
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Long nose, Recurrent otitis media, Sacral dimple, Wide nose, Low insertion of columella, Scoliosi...	OMIM:619995
Mandibulofacial Dysostosis, Guion-Almeida Type	Microtia, Low-set ears, Atresia of the external auditory canal, Conductive hearing impairment, Ov...	OMIM:610536
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Hartsfield Syndrome	Semilobar holoprosencephaly, Wide nose, Alobar holoprosencephaly, Hypoplasia of the frontal bone,...	OMIM:615465
Diamond-Blackfan Anemia 10	Microtia, Low-set ears, Hearing impairment, Atresia of the external auditory canal, Conductive he...	OMIM:613309
You-Hoover-Fong Syndrome	Kyphoscoliosis, Pectus excavatum, Double aortic arch, Microcephaly, Hearing impairment, Coarctati...	OMIM:616954
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Microtia, Pectus excavatum, Paranasal sinus hypoplasia, Arachnodactyl...	OMIM:300373
Mowat-Wilson Syndrome	Microphthalmia, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Microcephaly, Abnormal hea...	OMIM:235730
Ileal Neuroendocrine Tumor	Hypotension, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Cardiogenic shock,...	ORPHA:100078
Pagod Syndrome	Situs inversus totalis, Encephalocele, Meningocele, Abnormal aortic morphology, Pulmonary artery ...	ORPHA:991
Facial Paresis, Hereditary Congenital, 3	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:614744
Mosaic Variegated Aneuploidy Syndrome 1	Pulmonic stenosis, Atrial septal defect, Hydrocephalus	OMIM:257300
Bardet-Biedl Syndrome 1	Radial deviation of finger, Bone spicule pigmentation of the retina, Hyperautofluorescent macular...	OMIM:209900
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal upper limb amyotrophy, Decreased distal sensory nerve action potential, Proximal muscle ...	ORPHA:466768
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Trichorhinophalangeal Syndrome Type 2	Protruding ear, Conductive hearing impairment, Low-set, posteriorly rotated ears	ORPHA:502
Joubert Syndrome 27	Polydactyly	OMIM:617120
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,...	OMIM:312600
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, Overriding aorta, Ventri...	OMIM:617021
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Thin ribs, Tibial bowin...	OMIM:166210
Acrootoocular Syndrome	Abnormal earlobe morphology, Sensorineural hearing impairment, Low-set ears, Atresia of the exter...	ORPHA:2980
Cowden Syndrome 5	Angioid streaks of the fundus, Thyroiditis, Scoliosis, Pectus excavatum, Kyphosis, Hearing impair...	OMIM:615108
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Autosomal Recessive Multiple Pterygium Syndrome	Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the phalanges of the hand,...	ORPHA:2990
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Pectus excavatum, Abnormal heart morphology, Hip dislocation, Anteverted nares, Dan...	ORPHA:96092
Mucolipidosis Type Iii Alpha/Beta	Sensorineural hearing impairment, Recurrent otitis media, Conductive hearing impairment	ORPHA:423461
Dermotrichic Syndrome	Short nose, Depressed nasal bridge	ORPHA:99688
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Atresia of the external auditory canal, Conductive hearing impairment, Simple ear	OMIM:602471
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull...	OMIM:180105
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, 11 pairs of ribs, Aortic root aneurysm, Optic nerve hypoplasia, F...	OMIM:620025
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperpigmentation of the skin, Absent eyelashes, Osteolytic defects of the distal phalanges of th...	ORPHA:90153
Cardiofaciocutaneous Syndrome 1	Pulmonic stenosis, Atrial septal defect, Hydrocephalus, Hypertrophic cardiomyopathy	OMIM:115150
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Short long bone, Femoral bowing, Acetabular spurs, Postaxial polydactyly, S...	OMIM:615503
Peroxisome Biogenesis Disorder 2B	Anteverted nares, Low-set ears, Epicanthus, Polar cataract, Wide nasal bridge, Adrenal insufficiency	OMIM:202370
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Slender long bone, Thin ribs, Trigonocephaly, Decreased calvarial ossification, Mi...	OMIM:618265
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Bilateral choanal atresia, Hyperpigmentation of the skin, 2-3 toe syndactyly, Absent eyelashes, L...	OMIM:106260
Cerebrofacioarticular Syndrome	Pulmonic stenosis, Abnormal heart morphology	ORPHA:314679
Brittle Cornea Syndrome	Pulmonic stenosis, Mitral valve prolapse	ORPHA:90354
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Abnor...	ORPHA:397951
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma, Short nose, Anteverted nares	OMIM:601853
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Palmoplantar hyperkeratosis, Abnormality of the philtrum, Microdontia, Cleft lip, Cleft upper lip...	OMIM:225060
Jaberi-Elahi Syndrome	Optic atrophy, Short nose, Depressed nasal bridge, Cataract	OMIM:617988
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Houge-Janssens Syndrome 2	Hydrocephalus, Postaxial polydactyly, Broad hallux, Tented upper lip vermilion, Open mouth, Hip d...	OMIM:616362
Macrodactyly	Macrodactyly	OMIM:155500
Cole-Carpenter Syndrome 2	Turricephaly, Lambdoidal craniosynostosis, Hydrocephalus, Thin ribs, Narrow iliac wing, Pectus ex...	OMIM:616294
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Periventricular Nodular Heterotopia 7	Anteverted nares, Short nose, Optic disc pallor	OMIM:617201
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Turricephaly, Abnormal earlobe morphology, Proximal tibial and fibular fusion...	ORPHA:95699
Pontocerebellar Hypoplasia, Type 10	Hypoplasia of the corpus callosum, Short nose, Kyphoscoliosis, Low hanging columella, Highly arch...	OMIM:615803
Apert Syndrome	Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Narrow palate, Hydrocephalus, Posta...	OMIM:101200
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Achondrogenesis	Anteverted nares, Short nose	ORPHA:932
Alstrom Syndrome	Polydactyly, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes in...	OMIM:203800
Congenital Disorder Of Glycosylation, Type Iit	Low-set ears, Conductive hearing impairment, Posteriorly rotated ears	OMIM:618885
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Optic atrophy, Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Broad co...	OMIM:619383
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Omphalocele, Abnormal heart morphology, Umbilical hernia, Ventricular septal defect	ORPHA:254534
Proteus-Like Syndrome	Retinal detachment, Anteverted nares, Heterochromia iridis, Cataract, Limbal dermoid, Abnormal pu...	ORPHA:2969
Canavan Disease	Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation	ORPHA:141
D-Bifunctional Protein Deficiency	Hypoplasia of the corpus callosum, Retrognathia, Decreased nerve conduction velocity, Cerebral dy...	OMIM:261515
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebral atrophy, Abnormality of the ear, Subcapsular cataract, Hypergonadotropic hypogonadism, B...	OMIM:268020
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:619909
Jalili Syndrome	Optic atrophy, Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morph...	ORPHA:1873
Keutel Syndrome	Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Ventricular septal defect, Peripher...	OMIM:245150
Chromosome 5Q12 Deletion Syndrome	Patent foramen ovale, Hypotension, Patent ductus arteriosus, Atrial septal defect, Ventricular se...	OMIM:615668
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
19P13.12 Microdeletion Syndrome	Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impairment, Low-s...	ORPHA:254346
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A...	OMIM:602772
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Hypoplasia of the corpus callosum, Long nose, Global brain atrophy, Retrognathia, Broad eyebrow, ...	ORPHA:457351
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Highly arched eyebrow, Sensorineural hearing impairment, Pectus carinatum, Iris a...	ORPHA:261552
Warburg-Cinotti Syndrome	Corneal neovascularization, Osteolytic defects of the phalanges of the hand, Retinal dystrophy, C...	OMIM:618175
Atypical Werner Syndrome	Rocker bottom foot, Premature graying of hair, Delayed puberty, Aortic valve stenosis, White fore...	ORPHA:79474
Retinitis Pigmentosa 43	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Optic disc pallor, Atten...	OMIM:613810
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Mixed hearing impairment, Broad lateral eyebrow, Anteverted nares, Low-set ears, Long eyelashes, ...	OMIM:608624
Cowden Syndrome 6	Angioid streaks of the fundus, Thyroiditis, Scoliosis, Pectus excavatum, Kyphosis, Hearing impair...	OMIM:615109
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Hypertrophic cardiomyopathy, Kyphosis, Pigmentary retinopathy	OMIM:618234
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Depressed nasal bridge	ORPHA:210548
Smith-Magenis Syndrome	Short nose, Retinal detachment, Anteverted nares, Microcornea, Wide nasal bridge, Depressed nasal...	ORPHA:819
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Inguinal hernia, Narrow chest, Thin ribs, Femoral bowing, Short ribs, Short long b...	OMIM:618188
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Persistent left superior v...	OMIM:618494
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Umbilical herni...	OMIM:265000
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Absent toe, Abnormal pinna morphology, Microtia, Broad thumb, Ap...	ORPHA:857
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Conductive hearing impairment	OMIM:244400
Fibrous Dysplasia Of Bone	Abnormality of the sphenoid sinus, Abnormal facial skeleton morphology, Abnormal zygomatic bone m...	ORPHA:249
Osteogenesis Imperfecta, Type Xvi	Hearing impairment, Conductive hearing impairment	OMIM:616229
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Supernumerary tooth, Abnormal cranial nerve morphology, Sensorineural hearing impairment, Microti...	ORPHA:90024
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Foxp1 Syndrome	Short nose, Broad nasal tip, Prominent nasolabial fold, Recurrent upper respiratory tract infections	ORPHA:391372
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Aplasia of the inferior half of the cerebellar vermis, Retinal dysplasia, Hydrocep...	OMIM:613154
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Chronic otitis media, Clinodactyly of the 5th finger,...	ORPHA:96167
Arms, Malformation Of	Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis	OMIM:107900
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Prominent occiput, Thin ribs, Short ribs, Abnormal pin...	ORPHA:3404
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Broad lateral eyebrow, Optic nerve hypoplasia, Arachnodactyly, Abnormal heart mor...	ORPHA:500150
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Abnormal autonomic nervous system ph...	OMIM:601559
Frontometaphyseal Dysplasia 2	Pulmonic stenosis, Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus	OMIM:617137
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Hydrocephalus, Esophageal varix, Death in infancy, Postaxial polydactyly, Enamel hy...	OMIM:614576
Mucolipidosis Type Iv	Corneal opacity, Retinopathy, Microcephaly, Abnormality of retinal pigmentation, Abnormal nasal m...	ORPHA:578
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Thick lower lip vermilion, Widely spaced teeth, Short philtrum, ...	OMIM:619297
Catel-Manzke Syndrome	Low insertion of columella, Pectus carinatum, Short metacarpal, Pectus excavatum, Ulnar deviation...	OMIM:616145
Non-Distal Duplication 13Q	Aplasia/Hypoplasia affecting the eye, Short nose	ORPHA:1702
Choroidal Atrophy-Alopecia Syndrome	Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epithelium, Finger syndactyly, ...	ORPHA:1433
Transketolase Deficiency	Patent foramen ovale, Abnormal coronary artery course, Abnormal heart morphology, Patent ductus a...	ORPHA:488618
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Wide nose, Cleft ala nasi, Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh...	OMIM:271665
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin corpus callosum, Dilation of Virchow-Robin spaces, Death in childhood, Microcephaly, Retinal...	OMIM:619517
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Omphalocele, Natal tooth, Atrial septal defect, Ventricular septal defect	OMIM:145420
Okamoto Syndrome	Aortic valve stenosis, Abnormal mitral valve morphology, Microcephaly, Abnormal heart morphology,...	ORPHA:2729
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Hyperlordosis, Scapular winging, Depressed nasal ridge, Distichiasis, Microcepha...	OMIM:600462
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti...	ORPHA:215
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Hypophosphatasia	Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology, ...	ORPHA:436
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Meier-Gorlin Syndrome 4	Thick lower lip vermilion, Slender long bone, Narrow mouth, Hypoplasia of the maxilla, Micrognath...	OMIM:613804
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Retrognathia, Abnormal pinna morphology, Enlarged thorax, Pectus excavatum, Kyph...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Retrognathia, Abnormal pinna morphology, Enlarged thorax, Pectus excavatum, Kyph...	ORPHA:99228
Monosomy X	Delayed puberty, Retrognathia, Abnormal pinna morphology, Enlarged thorax, Pectus excavatum, Kyph...	ORPHA:99226
Turner Syndrome	Delayed puberty, Retrognathia, Abnormal pinna morphology, Enlarged thorax, Pectus excavatum, Kyph...	ORPHA:881
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Cowden Syndrome 1	Angioid streaks of the fundus, Thyroiditis, Scoliosis, Pectus excavatum, Hemimegalencephaly, Kyph...	OMIM:158350
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly, Encephalocele	OMIM:611560
Prune Belly Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	ORPHA:2970
Lambotte Syndrome	Semilobar holoprosencephaly, Ventricular septal defect	OMIM:245552
Legius Syndrome	Pulmonic stenosis, Paroxysmal atrial tachycardia, Mitral valve prolapse	ORPHA:137605
Geroderma Osteodysplasticum	Periodontitis, Hyperextensibility of the finger joints, Mandibular prognathia, Femoral bowing, Ti...	OMIM:231070
Kniest Dysplasia	Conductive hearing impairment, Recurrent otitis media	OMIM:156550
Transaldolase Deficiency	Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr...	OMIM:606003
Kleefstra Syndrome 1	Anteverted nares, Single transverse palmar crease, Abnormal pinna morphology, Mandibular prognath...	OMIM:610253
Congenital Disorder Of Glycosylation, Type Iig	Stenosis of the external auditory canal, Microtia, Low-set ears, Conductive hearing impairment, P...	OMIM:611209
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Retrognathia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypoplastic pelvis, Bila...	OMIM:618022
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Scoliosis, Death in adolescence, Microcephaly, Pigmentary retinopathy, Hip dislocation	OMIM:619059
Woolly Hair Nevus	Persistent pupillary membrane, Heterochromia iridis	ORPHA:79414
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Dextrocardia, Delayed eruption of teeth, Sensorineural h...	ORPHA:2315
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Senso...	OMIM:618733
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Cerebral atrophy, Periventricular white matter hyperintensities,...	ORPHA:79282
Pseudoaminopterin Syndrome	Orofacial cleft, Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip s...	ORPHA:221120
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Inguinal hernia, Highly arched eyebrow, Anteverted nares, Subcortical cerebral atroph...	ORPHA:96147
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Vascular dilatation	OMIM:219730
Intellectual Developmental Disorder, X-Linked 21	Short nose	OMIM:300143
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Bilater...	OMIM:268315
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At...	OMIM:618195
Calvarial Doughnut Lesions With Bone Fragility	Mixed hearing impairment	OMIM:126550
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Carpenter Syndrome 2	Retrognathia, Highly arched eyebrow, Sensorineural hearing impairment, Pectus carinatum, Pectus e...	OMIM:614976
X-Linked Lissencephaly With Abnormal Genitalia	Ventricular septal defect, Patent ductus arteriosus	ORPHA:452
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Short nose	OMIM:619356
Achondrogenesis Type 1A	Anteverted nares, Short nose	ORPHA:93299
Peho Syndrome	Optic atrophy, Short nose	OMIM:260565
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Short palpebral fissure, Cafe-au-lait spot, Microcephaly, Micrognathia,...	OMIM:613951
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Hearing impairment, Short neck, Vertebral segmentation defect, Abnormal rib morphology	ORPHA:2578
Bent Bone Dysplasia Syndrome 2	Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae,...	OMIM:620076
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Intellectual Developmental Disorder, X-Linked 98	Secondary microcephaly, Long nose, Short nose, Clinodactyly of the 5th finger, Anteverted nares, ...	OMIM:300912
Angelman Syndrome	Widely spaced teeth, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mo...	OMIM:105830
Coffin-Lowry Syndrome	Highly arched eyebrow, Sensorineural hearing impairment, Pectus carinatum, Short metacarpal, Pect...	OMIM:303600
Meckel Syndrome 14	Retrognathia, Occipital encephalocele, Postaxial hand polydactyly, Bowing of the long bones, Post...	OMIM:619879
Bardet-Biedl Syndrome 12	Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:615989
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Palmoplantar keratoderma, Delayed eruption o...	ORPHA:1071
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Marshall-Smith Syndrome	Conductive hearing impairment	ORPHA:561
Triploidy	Low-set, posteriorly rotated ears, Meningocele, Hydrocephalus, Micrognathia, Holoprosencephaly	ORPHA:3376
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, Natal tooth, Cleft p...	ORPHA:158687
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Delayed eruption of teeth, Ventricular hypertrophy, Tricuspid stenosis, Pul...	OMIM:143095
Radio-Renal Syndrome	Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal rib morphology, Microme...	ORPHA:3015
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	ORPHA:75389
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Madelung deformity, Right aortic arch, Scoliosis, Kyphosis, Retinopathy, Microcep...	OMIM:301111
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Tetralogy of Fallot	ORPHA:3306
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Depressed nasal bridge	OMIM:614732
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Char Syndrome	Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus	ORPHA:46627
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Pancreatitis, Hypertrophic cardiomyopathy, Adrenal insufficiency	OMIM:619386
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno...	ORPHA:2491
Holoprosencephaly-Craniosynostosis Syndrome	Short palpebral fissure, Clinodactyly of the 5th finger, Microcephaly, Hypoplastic vertebral bodi...	ORPHA:2163
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atr...	OMIM:121050
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Unilateral facial palsy, Atrioventricular canal defect, Thin corpus callosum, Scoliosis, Tapered ...	OMIM:619480
Spinocerebellar Ataxia-Dysmorphism Syndrome	Optic atrophy, Anteverted nares, Short nose	ORPHA:1185
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu...	OMIM:620519
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Telecanthus, Anteverted nares, Abnormal pinna morphology, Incisor macrodontia, Microcephaly, Long...	ORPHA:438216
Ohdo Syndrome	Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:249620
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Melas	Sensorineural hearing impairment, Cardiomyopathy, Recurrent pancreatitis, Type I diabetes mellitu...	ORPHA:550
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Patent ductus arteriosus	OMIM:613680
Craniometadiaphyseal Dysplasia	Genu valgum, Cubitus valgus, Abnormally large globe, Flared metaphysis, Scoliosis, Low-set ears, ...	OMIM:269300
Retinitis Pigmentosa 72	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b...	OMIM:616469
Tetrasomy 18P	Short nose	ORPHA:3307
Trichothiodystrophy 1, Photosensitive	Short nose, Microphthalmia, Microcornea, Death in infancy, Cataract, Keratoconjunctivitis sicca	OMIM:601675
Mirage Syndrome	Rocker bottom foot, Radial club hand, Hydrocephalus, Scoliosis, Adrenal hypoplasia, Hypergonadotr...	OMIM:617053
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Sensorineural hearing impairment, Pectus carinatum, Pectus excavatum, Pulmonic st...	ORPHA:261537
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, C...	OMIM:617781
Bor Syndrome	Retrognathia, Cleft palate, Branchial cyst	ORPHA:107
Al-Raqad Syndrome	Short nose	OMIM:616459
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Coffin-Siris Syndrome 1	Retrognathia, Sandal gap, Dislocated radial head, Abnormal pinna morphology, Prominent fingertip ...	OMIM:135900
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, A...	OMIM:600460
Non-Functioning Pituitary Adenoma	Vertigo, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency,...	ORPHA:91349
Wolf-Hirschhorn Syndrome	Chronic otitis media, Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Microtia, K...	ORPHA:280
Stickler Syndrome, Type I	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:108300
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Prader-Willi Syndrome	Delayed puberty, Radial deviation of finger, Kyphosis, Syndactyly, Clinodactyly, Adrenal insuffic...	OMIM:176270
Smooth Muscle Dysfunction Syndrome	Periventricular white matter hyperintensities, Retinal infarction, Mydriasis, Dilatation of the c...	OMIM:613834
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Supernumerary tooth, Aplasia of the epiglottis, Preaxial polydactyly, Po...	OMIM:615948
Branchio-Oculo-Facial Syndrome	Premature graying of hair, Low-set, posteriorly rotated ears, Nasolacrimal duct obstruction, Colo...	ORPHA:1297
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Ectropion, Microphthalmia, Corneal ulceration, Kyphosis, Distichiasis...	OMIM:153400
Sotos Syndrome	Low-set ears, Macrotia, Conductive hearing impairment, Posteriorly rotated ears, Otitis media	OMIM:117550
Congenital Microcoria	Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris...	ORPHA:566
Coffin-Siris Syndrome	Wide nasal base, Microcephaly, Abnormal heart morphology, Short 5th finger, Clinodactyly, Antever...	ORPHA:1465
Mayer-Rokitansky-Küster-Hauser Syndrome	Pulmonic stenosis, Atrial septal defect	ORPHA:3109
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Cerebral atrophy, Corneal neovascularization, Secondary microcephaly, Tarsal scler...	ORPHA:404454
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Abnormal aortic morphology, Broad thumb, Micrognathia, Patent duc...	ORPHA:2001
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Midline defect of the nose, Asymmetry of the thorax, Finger syndactyly, Anteverted nares, General...	ORPHA:1969
Matthew-Wood Syndrome	Microphthalmia, Low-set ears, Anophthalmia	ORPHA:2470
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Sensorineural heari...	OMIM:618144
Autosomal Dominant Omodysplasia	Short nose, Depressed nasal bridge	ORPHA:93328
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:98754
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Short nose, Bulbous nose	OMIM:616420
Congenital Syphilis	Large placenta, Hydrocephalus, Tibial bowing, Notched primary central incisor, High palate, Semil...	ORPHA:499009
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Inguinal hernia, Slender long bone, Femoral retroversion, Vertebral compress...	OMIM:610915
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Ulnar bowing, Corneal opacity, Micromelia, Aplasia/Hypoplasia of the radius, ...	ORPHA:1765
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the...	ORPHA:2234
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opti...	OMIM:615233
Mend Syndrome	Polydactyly, Hydrocephalus, 2-3 toe syndactyly, High palate, Micrognathia, Long fingers, Broad ha...	OMIM:300960
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Semilobar holoprosencephaly, Absence of Stensen duct, Rectovaginal fistula, Oligodontia, Selectiv...	OMIM:129900
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Pectus carinatum, Short ribs, Cardiomy...	OMIM:312870
Alkuraya-Kucinskas Syndrome	Cataract, Anteverted nares, Short nose, Depressed nasal bridge	OMIM:617822
Costello Syndrome	Lymphangiectasis, Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve pro...	OMIM:218040
ERI1-related disease	Macrotia, Conductive hearing impairment, Low-set ears	OMIM:608739
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:617450
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontotemporal cerebral atrophy, Inlet ventricular septal defect, Broad thumb, Syndactyly, Polyda...	OMIM:619534
Molybdenum Cofactor Deficiency, Complementation Group B	Lens luxation, Ectopia lentis, Neonatal death, Short nose	OMIM:252160
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, High palate, Micrognathia, Tented upper lip vermilion, Deep philtrum	ORPHA:314655
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:98793
Facial Spasm	Anisocoria	OMIM:134300
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Atrial septal defect, Ve...	OMIM:618870
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Desbuquois Dysplasia 1	Concave nasal ridge, Short nose, Developmental glaucoma, Depressed nasal bridge	OMIM:251450
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Noonan Syndrome 1	Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, Patent ductus arteriosus, A...	OMIM:163950
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:177904
Degcags Syndrome	Tachycardia, Dysplastic pulmonary valve, Patent foramen ovale, Pulmonary arterial hypertension, P...	OMIM:619488
Congenital Bile Acid Synthesis Defect Type 4	Stroke-like episode, Type II diabetes mellitus, Hypogonadism, Cataract, Pigmentary retinopathy	ORPHA:79095
Mowat-Wilson Syndrome	Microphthalmia, Focal white matter lesions, Sensorineural hearing impairment, Pectus carinatum, P...	ORPHA:2152
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:177901
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Anisocoria, Hearing impairment, Hypohidrosis, Ptosis, Prominent nose, Ad...	OMIM:615510
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short nose, Optic nerve hypoplasia, Retinal coloboma, Prominent nasal bridge, Broad nasal tip, Wi...	OMIM:300749
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Fountain Syndrome	Midface retrusion, Craniofacial hyperostosis, Spina bifida occulta, Sensorineural hearing impairm...	ORPHA:3219
Congenital Tracheomalacia	Partial anomalous pulmonary venous return, Right aortic arch, Ventricular septal defect, Pulmonar...	ORPHA:95430
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b...	OMIM:613983
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Supernumerary tooth, Metaphyseal striations, Delayed eruption of teeth, J...	ORPHA:2909
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Per...	OMIM:618775
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Amish Lethal Microcephaly	Micrognathia, Spina bifida	ORPHA:99742
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos...	OMIM:619698
Woods Syndrome	Ventricular septal defect	OMIM:615236
Rabin-Pappas Syndrome	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:620155
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of...	ORPHA:163746
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Short nose, Hyperpigmentation of the skin, Osteolytic defects of the distal phal...	ORPHA:90154
Meier-Gorlin Syndrome 3	Patellar hypoplasia, Talipes equinovarus, Slender long bone, Aplasia/Hypoplasia of the patella, N...	OMIM:613803
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Delayed puberty, Kyphoscoliosis, Small pituitary gland, Microcephaly, Carious teeth, Ulnar deviat...	OMIM:612079
Deafness-Craniofacial Syndrome	Sensorineural hearing impairment, Patent ductus arteriosus, Upslanted palpebral fissure, Wide nas...	ORPHA:3241
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Dominant Beta-Thalassemia	Delayed puberty, Hyperplasia of the maxilla, Genu valgum, Hypoparathyroidism, Hyperpigmentation o...	ORPHA:231226
Diamond-Blackfan Anemia 7	Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arte...	OMIM:612562
Arboleda-Tham Syndrome	Pulmonic stenosis, Secundum atrial septal defect, Patent ductus arteriosus, Atrial septal defect,...	OMIM:616268
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension, Patent ductus a...	ORPHA:2519
Trisomy X	Atrial septal defect, Ventricular septal defect	ORPHA:3375
Spondylometaphyseal Dysplasia, Sedaghatian Type	Turricephaly, Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal rib morphology,...	ORPHA:93317
Kapur-Toriello Syndrome	Conductive hearing impairment, Low-set ears	OMIM:244300
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Developmental Delay, Hypotonia, And Impaired Language	Mixed hearing impairment	OMIM:620012
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect	OMIM:613730
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Death in childhood, Sensorineural hearing impairment, Hypertrophic cardiomyopathy,...	OMIM:220110
Faciocardiomelic Syndrome	Polydactyly, Slender long bone, Hypoplastic pelvis, Micrognathia, Wide mouth, Long philtrum, Dent...	OMIM:612731
Lathosterolosis	Short nose, Anteverted nares, Microcornea, Cataract, Opacification of the corneal stroma, Bulbous...	ORPHA:46059
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal hea...	ORPHA:363700
3Q29 Microdeletion Syndrome	Cataract, Short nose, Microphthalmia, Prominent nasal bridge	ORPHA:65286
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Microphthalmia, Hyperpigmentation of the skin, Cafe-au-lait spot, Micro...	OMIM:610832
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Bulbous nose, Depressed nasal bridge	OMIM:618430
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent foramen ovale, Anomalous origin of left subclavian artery, Pulmonic stenosis, Abnormal hea...	ORPHA:438213
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Short nose, Recurrent upper respiratory tract infections	ORPHA:3078
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormality of the dentition, Anal atresia, Short foot, Postaxial polydactyly, Bifid uvula, Cleft...	OMIM:300968
Poems Syndrome	Metaphyseal sclerosis, Hyperpigmentation of the skin, Clubbing of fingers, Abnormality of the end...	ORPHA:2905
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short nose, Short palpebral fissure, Death in childhood, Low insertion of columella, Anteverted n...	OMIM:619005
Thakker-Donnai Syndrome	Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Anteverted nares, Hemiverte...	ORPHA:1780
Knobloch Syndrome 1	Iris transillumination defect, Retinal detachment, Band keratopathy, Chorioretinal atrophy, Vitre...	OMIM:267750
Prader-Willi Syndrome	Small pituitary gland, Decreased circulating gonadotropin concentration, Hypopigmentation of the ...	ORPHA:739
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Telecanthus, Anteverted nares, Long palpebral fissure, Wide nasal bridge, Underdeveloped nasal alae	OMIM:616158
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Retinal arteriolar tortuosity, Inguinal hernia, Stroke, Hyp...	OMIM:194050
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Cataract, Anteverted nares, Short nose	OMIM:612394
Microtia-Anotia	Microtia, Holoprosencephaly, Anotia	OMIM:600674
Adnp Syndrome	Polydactyly, Advanced eruption of teeth, Thick lower lip vermilion, Sandal gap, Single transverse...	ORPHA:404448
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ...	ORPHA:79435
Kawasaki Disease	Myocarditis, Congestive heart failure, Vasculitis, Ascending tubular aorta aneurysm, Abnormal hea...	ORPHA:2331
Craniometaphyseal Dysplasia, Autosomal Dominant	Mixed hearing impairment	OMIM:123000
Specc1L-Related Hypertelorism Syndrome	Highly arched eyebrow, Pectus excavatum, Umbilical hernia, Advanced eruption of teeth, Abnormal h...	ORPHA:1519
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Umbilical hernia, Atrial septal defect, Ventricular septal defect, Mitra...	OMIM:615879
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Tooth agenesis, Sinusitis, Abnormal dental morphology, Hypoplasia o...	ORPHA:238468
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop...	OMIM:618748
Fetal Alcohol Syndrome	Anteverted nares, Microphthalmia, Short nose	ORPHA:1915
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Short nose, Decreased nerve conduction velocity, Retinal dystrophy, Single transve...	OMIM:614863
Immunodeficiency 23	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:615816
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Sensory axonal neuropathy, Peripheral axonal neuropathy, Sensorineural hearing impairment, Scapul...	OMIM:607459
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Omphalocele	OMIM:617022
Loeys-Dietz Syndrome 1	Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Inguinal herni...	OMIM:609192
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Bilateral choanal atresia, Recurrent otitis media, Wide nose, Narrow chest, ...	OMIM:619525
Mosaic Trisomy 16	Atrial septal defect, Large placenta, Coarctation of aorta, Abnormal heart morphology, Patent duc...	ORPHA:1708
Gapo Syndrome	Optic atrophy, Short nose, Keratoconus, Anteverted nares, Megalocornea, Shallow anterior chamber,...	OMIM:230740
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Bilateral sensorineural hearing impairment, Hypertrophic cardiomyopathy, Ptosis, P...	ORPHA:436271
Hennekam-Beemer Syndrome	Hearing impairment, Conductive hearing impairment, Microtia	ORPHA:2135
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, 10 pairs of ribs, Clinodactyly of the 5th finger, 11 pairs ...	OMIM:117650
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Buphthalmos, Short nose, Wide nasal bridge	OMIM:618005
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment	OMIM:602080
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose	OMIM:615539
Oculocutaneous Albinism Type 2	Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hypopigmentation...	ORPHA:79432
Nijmegen Breakage Syndrome	Long nose, Recurrent otitis media, Sandal gap, 2-3 toe syndactyly, Upslanted palpebral fissure, C...	OMIM:251260
Classical Ehlers-Danlos Syndrome	Dislocated radial head, Arteriovenous fistula, Dermatochalasis, Arterial dissection, Mitral valve...	ORPHA:287
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Microcephaly, Arachnodactyly, Contracture of the distal interphalangeal joint of th...	ORPHA:83617
Caudal Duplication	Spina bifida, Myelomeningocele, Omphalocele	ORPHA:1756
Rabson-Mendenhall Syndrome	Polydactyly, Advanced eruption of teeth, Dental crowding, Mandibular prognathia, Gingival overgro...	ORPHA:769
Ataxia With Vitamin E Deficiency	Scoliosis, Diabetes mellitus, Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy	ORPHA:96
Cranioectodermal Dysplasia 3	Widely spaced teeth, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Everted lower lip vermilion, Pos...	OMIM:614099
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Short nose, Wide nose	OMIM:615851
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, High palate, Postaxial polydactyly, Microgna...	OMIM:617527
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Bulbous nose, Depressed nasal bridge	ORPHA:261144
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Short nose	OMIM:256600
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h...	ORPHA:369929
Camptodactyly Syndrome, Guadalajara Type 3	Spina bifida occulta, Abnormal pinna morphology, Abnormal rib morphology, Broad femoral neck, Sho...	ORPHA:488434
Cutis Laxa, Autosomal Recessive, Type Iic	Dental crowding, Mandibular prognathia, High palate, Narrow mouth, Median cleft palate, Camptodac...	OMIM:617402
Neurofibromatosis-Noonan Syndrome	Pulmonic stenosis, Secundum atrial septal defect	OMIM:601321
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Anteverted nares, Short nose, Wide nose	ORPHA:391408
17Q11 Microdeletion Syndrome	Stroke, Hypertension, Renal artery stenosis, Hypertrophic cardiomyopathy, Abnormal internal carot...	ORPHA:97685
Cutis Laxa, Autosomal Dominant 1	Congestive heart failure, Aortic regurgitation, Inguinal hernia, Mitral regurgitation, Ventricula...	OMIM:123700
Combined Oxidative Phosphorylation Deficiency 25	Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:616430
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Anal stenosis, Selective tooth agenesis, Split hand, Ectrodactyly, Micro...	OMIM:604292
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Ventricular septal defect, Inguinal hernia	ORPHA:261190
9Q21.13 Microdeletion Syndrome	Polydactyly, Downturned corners of mouth, Abnormal tongue morphology, Hip dysplasia	ORPHA:531151
Intellectual Developmental Disorder, Autosomal Dominant 1	Short nose, Astigmatism, Depressed nasal ridge, Prominent nose, Bulbous nose, Short columella	OMIM:156200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:242860
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Chops Syndrome	Optic atrophy, Anteverted nares, Short nose, Cataract	OMIM:616368
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Lathosterolosis	Cataract, Anteverted nares, Short nose, Prominent nasal tip	OMIM:607330
Chiari Malformation Type Ii	Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida	OMIM:207950
Prolidase Deficiency	Concave nasal ridge, Short nose, Depressed nasal bridge	OMIM:170100
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Brachydactyly, Type B1	Delayed eruption of permanent teeth, Ventricular septal defect	OMIM:113000
Retinitis Pigmentosa 74	Polydactyly, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Scoliosis, Pectus excavatum, Hearing impairment, Micrognathia, Hyperthyroi...	OMIM:617675
Classic Pantothenate Kinase-Associated Neurodegeneration	Eye of the tiger anomaly of globus pallidus, Rod-cone dystrophy, Pigmentary retinopathy, Optic di...	ORPHA:216866
Craniopharyngioma	Optic atrophy, Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Abnormal na...	ORPHA:54595
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Anteverted nares, Short nose, Concave nasal ridge, Depressed nasal bridge	OMIM:613038
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Beta-Thalassemia Major	Delayed puberty, Hyperplasia of the maxilla, Genu valgum, Hypoparathyroidism, Hyperpigmentation o...	ORPHA:231214
Trisomy 20P	Short nose, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Anteverted nares, S...	ORPHA:261318
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Short nose, Bulbous nose, Wide nasal bridge, Depressed nasal bridge	OMIM:617061
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Wildervanck Syndrome	Congenital sensorineural hearing impairment, Meningocele	ORPHA:3456
Sirenomelia	Sirenomelia, Aplasia/Hypoplasia of the radius, Absence of the sacrum, Spina bifida	ORPHA:3169
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Sensorineural hearing impairment, Low-set ears, Lop ear, Cupped ear	OMIM:300472
Pallister-Killian Syndrome	Kyphoscoliosis, Hypopigmentation of the skin, Aortic valve stenosis, Umbilical hernia, Hip disloc...	OMIM:601803
X-Linked Hypophosphatemia	Genu valgum, Enlargement of the costochondral junction, Vertebral hyperostosis, Craniosynostosis,...	ORPHA:89936
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
Adrenomyeloneuropathy	Adrenocortical abnormality, Cerebral dysmyelination, Lip hyperpigmentation, Adrenocorticotropic h...	ORPHA:139399
Kearns-Sayre Syndrome	Hypoparathyroidism, Sensorineural hearing impairment, Cardiomyopathy, Microcephaly, Ptosis, Prima...	OMIM:530000
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
16P11.2P12.2 Microdeletion Syndrome	Long nose, Short nose, Anteverted nares, Bulbous nose, Absent nasal bridge	ORPHA:261211
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss...	OMIM:208500
Alport Syndrome	Recurrent corneal erosions, Abnormal corneal endothelium morphology, Posterior subcapsular catara...	ORPHA:63
Craniometaphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment	OMIM:218400
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Cranioectodermal Dysplasia 2	Polydactyly, Retrognathia, Widely spaced teeth, Rhizomelia, High palate, Everted lower lip vermil...	OMIM:613610
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Mydriasis, Diaphyseal dysplasia, Optic nerve compression, Increased intervertebral...	OMIM:619727
Popliteal Pterygium Syndrome	Spina bifida occulta, Cleft upper lip, Cutaneous finger syndactyly, Bifid uvula, Cleft palate, Lo...	OMIM:119500
Chromosome 9P Deletion Syndrome	Perimembranous ventricular septal defect, Inguinal hernia, Omphalocele, Heart murmur, Patent duct...	OMIM:158170
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Broad columella, Depressed nasal bridge	OMIM:617865
Coffin-Siris Syndrome 7	Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect	OMIM:618027
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Depressed nasal ridge, Absent nasal septal cartilage, Severe sensorineural hearing impairment, Me...	ORPHA:2003
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic leg shortening, Early ossification of capital femoral epiphys...	ORPHA:397715
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:220500
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Aplasia of the pectoralis major muscle, Abnormality of the wrist, A...	ORPHA:3138
19P13.13 Microdeletion Syndrome	Optic atrophy, Short nose, Optic nerve hypoplasia, Anteverted nares, Depressed nasal bridge	ORPHA:357001
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short thorax, Short...	ORPHA:3003
Kleefstra Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Pulmonary artery stenosis, Coarctation of ...	ORPHA:261494
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cataract, Short nose, Megalocornea, Depressed nasal bridge	OMIM:601353
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Subv...	OMIM:614114
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Missing ribs, Dolichocephaly, B...	OMIM:271520
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Ramon Syndrome	Delayed eruption of teeth, Scoliosis, Axenfeld anomaly, Optic disc pallor, Kyphosis, Hearing impa...	OMIM:266270
Congenital Sialidosis Type 2	Polydactyly, Hydrocephalus, Gingival overgrowth, Protruding tongue, Umbilical hernia	ORPHA:93400
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Larsen Syndrome	Conductive hearing impairment	ORPHA:503
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Patent ductus arter...	OMIM:300963
Trisomy 9P	Abnormal nasal morphology, Abnormal pupil morphology	ORPHA:236
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose	OMIM:618087
Cone-Rod Dystrophy 3	Optic disc pallor, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal blood ...	OMIM:604116
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect	OMIM:263630
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Short nose, Broad nasal tip, Wide nasal bridge	OMIM:618529
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
1P21.3 Microdeletion Syndrome	Short nose, Astigmatism, Broad nasal tip	ORPHA:293948
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened medullary cav...	OMIM:182250
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Brachycephaly, Platyspondyly, Disproportionate shortening of the tibia, Po...	OMIM:263520
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Red hai...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Red hai...	ORPHA:71526
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in childhood, Death in adolescence, Hearing impairment, Ptosis, Mottled pigmentation of pho...	OMIM:560000
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Microphthalmia, Iris atrophy, Wide nasal bridge	OMIM:201180
Congenital Disorder Of Glycosylation, Type Il	Short nose, Depressed nasal bridge	OMIM:608776
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L...	OMIM:615474
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Pgm3-Cdg	Chronic otitis media, Sensorineural hearing impairment, Conductive hearing impairment, Mild neuro...	ORPHA:443811
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia	OMIM:616777
Joubert Syndrome 8	Occipital encephalocele, Ptosis, Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal dystrophy, Atten...	OMIM:617547
Lowry-Wood Syndrome	Limited elbow extension, Irregular epiphyses, Clinodactyly of the 5th finger, Small epiphyses, Sq...	OMIM:226960
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Mixed hearing impairment, Low-set ears, Cupped ear	OMIM:615560
Joubert Syndrome 37	Postaxial polydactyly, High palate	OMIM:619185
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Finger syndactyly, Non-midline cleft of the upper lip, Scoliosis, Split hand...	ORPHA:1300
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	ORPHA:457193
16P12.1P12.3 Triplication Syndrome	Short nose, Bulbous nose	ORPHA:485405
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventricular septal defect	OMIM:615630
Smith-Kingsmore Syndrome	Short nose, Depressed nasal bridge	OMIM:616638
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Narrow nasal ridge, Pectus excavatum, Shallow orbits, Left ventricular hypertrophy, D...	OMIM:619127
Distal Deletion 10Q	Short nose, Astigmatism, Prominent nasal bridge, Prominent nose, Wide nasal bridge	ORPHA:96148
Orofaciodigital Syndrome Type 4	Retrognathia, Microcephaly, Abnormality of the ear, Genu varum, Microtia, third degree, Postaxial...	ORPHA:2753
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hyperpigmentation of t...	ORPHA:699
Meier-Gorlin Syndrome 2	Slender long bone, Abnormal pinna morphology, Microtia, Camptodactyly, Microcephaly, Micrognathia...	OMIM:613800
Fryns Syndrome	Rocker bottom foot, Microphthalmia, Proximal placement of thumb, Prominent fingertip pads, Thorac...	OMIM:229850
Retinitis Pigmentosa 83	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Asteroid hyalosis, Cysto...	OMIM:618173
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac death, Coarctation of aorta,...	OMIM:614921
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Lipodystrophy, Familial Partial, Type 7	Short nose, Orthostatic hypotension, Narrow nasal ridge, Low-set ears, Tinnitus, Developmental ca...	OMIM:606721
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Pigmentary retinopathy, Left ventricul...	ORPHA:3208
Chondrodysplasia Punctata, Autosomal Dominant	Hypoplasia of the nasal bone	OMIM:118650
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Retinitis Pigmentosa 37	Cystoid macular degeneration, Posterior subcapsular cataract, Nuclear cataract, Rod-cone dystroph...	OMIM:611131
Fetal Hydantoin Syndrome	Short nose, Depressed nasal ridge	ORPHA:1912
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears	OMIM:235510
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose	ORPHA:2983
Simpson-Golabi-Behmel Syndrome	Pectus excavatum, Death in infancy, Broad thumb, Umbilical hernia, Low-set, posteriorly rotated e...	ORPHA:373
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short nose, Wide nasal bridge	OMIM:620250
Reni Syndrome	Hyperpigmentation of the skin, Sensorineural hearing impairment, Microcephaly, Hypothyroidism, Pt...	OMIM:617575
Dyskeratosis Congenita	Premature graying of hair, Hypopigmented skin patches, Hypermelanotic macule, Cerebral calcificat...	ORPHA:1775
X Small Rings	Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm, Mitral stenosis	ORPHA:96201
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormal chorioretinal morphology, Chorioretinal atrophy, Hypertrophic cardiomyopathy, Retinopath...	ORPHA:5
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Ventricular septal defect	OMIM:618021
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Prominent nasal bridge, Wide nasal bridge	OMIM:619179
Intellectual Disability-Strabismus Syndrome	Prominent nose, Narrow nasal ridge, Short nose, Depressed nasal bridge	ORPHA:363528
Synostoses, Tarsal, Carpal, And Digital	Tarsal synostosis, Underdeveloped nasal alae, Short metacarpal, Metacarpophalangeal synostosis, A...	OMIM:186400
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Inguinal hernia, Coronary artery fistula, Ventricular septal defect, Abnormal cardi...	OMIM:614294
Culler-Jones Syndrome	Postaxial polydactyly, Cleft upper lip, Cleft palate	OMIM:615849
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Ruvalcaba Syndrome	Convex nasal ridge, Short nose	ORPHA:3121
Braddock-Carey Syndrome 1	Ventricular septal defect, Aortic valve prolapse	OMIM:619980
Primrose Syndrome	Delayed puberty, Cerebral calcification, Pectus excavatum, Kyphosis, Short distal phalanx of fing...	OMIM:259050
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R...	OMIM:617304
Chédiak-Higashi Syndrome	Decreased nerve conduction velocity, Hypopigmentation of hair, Cranial nerve paralysis, Hypopigme...	ORPHA:167
Abetalipoproteinemia	Kyphoscoliosis, Talipes equinovarus, Corneal ulceration, Hypothyroidism, Ptosis, Abnormality of r...	ORPHA:14
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Optic atrophy, Short nose	ORPHA:329178
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Abnormality of the sphenoid sinus, Optic nerve compression, Anterior hy...	ORPHA:91350
Mckusick-Kaufman Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, H...	ORPHA:2473
Molybdenum Cofactor Deficiency, Complementation Group A	Lens luxation, Ectopia lentis, Short nose	OMIM:252150
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Optic atrophy, Long nose, Short nose, Depressed nasal bridge	OMIM:618590
20Q11.2 Microduplication Syndrome	Short nose, Abnormal nasal bridge morphology, Anteverted nares, Wide nasal bridge, Depressed nasa...	ORPHA:363659
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Bifid nasal tip, Thick nasal alae, Bifid nose, Broad nasal tip	ORPHA:1827
Eisenmenger Syndrome	Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef...	ORPHA:97214
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, Co...	OMIM:617872
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Broad thumb, Microcephal...	OMIM:107480
Leber Congenital Amaurosis 15	Posterior subcapsular cataract, Optic disc pallor, Attenuation of retinal blood vessels, Peripapi...	OMIM:613843
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Gm1 Gangliosidosis	Congestive heart failure, Inguinal hernia, Cardiomyopathy, Ventricular septal defect, Abnormal he...	ORPHA:354
X-Linked Adrenoleukodystrophy	Increased circulating ACTH level, Progressive hearing impairment, Abnormality of adrenal physiolo...	ORPHA:43
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hepatic foam cells, Death in infancy, Adrenal calcification, Adrenal insu...	OMIM:278000
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment, Short nose, Astigmatism, Prominent nasolabial fold	ORPHA:2953
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect, Natal tooth	OMIM:616901
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Conductive hearing impairment, Recurrent otitis media	ORPHA:2502
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Eye of the tiger anomaly of globus pallidus, Fractures of the long bones, Pallidal...	ORPHA:157850
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Short nose	OMIM:613735
Renal And Mullerian Duct Hypoplasia	Short nose	OMIM:266810
Fanconi Anemia, Complementation Group W	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Abnormal radial ...	OMIM:617784
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresia, Patent ductus arteriosus	OMIM:620113
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Hypoplasia of the corpus callosum, Low hanging columella, Microcephaly, Hearing impairment, Broad...	ORPHA:404473
Loeys-Dietz Syndrome 5	Inguinal hernia, Aortic root aneurysm, Patent foramen ovale, Ascending aortic dissection, Atrial ...	OMIM:615582
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Short nose, Posterior subcapsular cataract, Anteverted nares, Bulbous nose, Depressed nasal bridge	OMIM:271510
Syndromic Diarrhea	Aortic regurgitation, Inguinal hernia, Abnormal heart morphology, Tetralogy of Fallot, Patent duc...	ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Patent ductus arteriosus after premature birth, Ventricular sep...	OMIM:620454
Peho Syndrome	Optic atrophy, Anteverted nares, Short nose	ORPHA:2836
Immunodeficiency 54	Microcephaly, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperpigmentation of the...	OMIM:609981
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Persistent pupillary membrane, Death in infancy, Cataract, Buphthalmos, Peters an...	OMIM:613150
Opitz Gbbb Syndrome	Inguinal hernia, Aortic root aneurysm, Patent foramen ovale, Omphalocele, Umbilical hernia, Coarc...	ORPHA:2745
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu...	ORPHA:26793
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Posteriorly rotated ears, Abnorm...	ORPHA:466943
Pfeiffer Syndrome Type 1	Short nose, Depressed nasal bridge	ORPHA:93258
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Broad nasal tip, Wide nasal bridge	OMIM:614749
Alpha-Mannosidosis, Adult Form	Mixed hearing impairment	ORPHA:309288
Heimler Syndrome 1	Amelogenesis imperfecta, Macular dystrophy, Sensorineural hearing impairment, Enamel hypoplasia, ...	OMIM:234580
Prader-Willi Syndrome Due To Translocation	Short nose, Underdeveloped nasolabial fold, Narrow nasal bridge, Anteverted nares, Stellate iris,...	ORPHA:177907
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short nose, Subretinal pigment epithelium hemorrhage, Anteverted nares, Broad nasal tip, Prominen...	ORPHA:357074
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Sensorineural hearing impairment, Mixed hearing impairment, Conductive hearing impairment, Overfo...	OMIM:300990
Codas Syndrome	Sensorineural hearing impairment, Crumpled ear, Conductive hearing impairment	OMIM:600373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:615398
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Astigmatism	ORPHA:457279
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Adenylosuccinase Deficiency	Anteverted nares, Short nose	OMIM:103050
Bazex-Dupre-Christol Syndrome	Hyperpigmentation of the skin, Low hanging columella, Narrow nasal ridge, Hypohidrosis, Underdeve...	OMIM:301845
Wolman Disease	Bone-marrow foam cells, Adrenal calcification, Adrenal insufficiency	ORPHA:75233
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Choroidal neovascularization, Iris nevus, Cystoid macular edem...	ORPHA:91500
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Ane Syndrome	Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo...	ORPHA:157954
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp...	OMIM:614557
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Inguinal hernia, Pulmonary artery stenosis, Atrial septal defec...	OMIM:300998
Neu-Laxova Syndrome	Retrognathia, Depressed nasal ridge, Spina bifida, Macrotia, Micrognathia, Trismus	ORPHA:2671
Rothmund-Thomson Syndrome, Type 2	Short nose, Microphthalmia, Microcornea, Zonular cataract, Cataract, Depressed nasal bridge	OMIM:268400
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Sensorineural hearing impairment, Mixed hearing impairment	OMIM:215150
Aspergillosis	Keratitis, Abnormal long bone morphology, Abnormal rib morphology, Abnormality of the vertebral c...	ORPHA:1163
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Distal Deletion 9P	Short nose, Wide nasal bridge	ORPHA:1642
Leukocyte Adhesion Deficiency Type Ii	Small earlobe, Microtia, Recurrent otitis media, Conductive hearing impairment	ORPHA:99843
Macrocephaly/Autism Syndrome	Short nose, Depressed nasal bridge	OMIM:605309
Pontocerebellar Hypoplasia, Type 8	Patent foramen ovale, Ventricular septal defect	OMIM:614961
Tetrasomy 5P	Anteverted nares, Short nose, Wide nasal bridge	ORPHA:3309
Dend Syndrome	Short nose, Anteverted nares	ORPHA:79134
Familial Dysautonomia	Optic atrophy, Corneal erosion, Corneal opacity, Heterochromia iridis, Abnormal pupil morphology	ORPHA:1764
Diaphanospondylodysostosis	Depressed nasal ridge, Short nose, Depressed nasal bridge	OMIM:608022
Gaucher Disease, Perinatal Lethal	Anteverted nares, Short nose, Neonatal death, Depressed nasal bridge	OMIM:608013
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Decreased circulating androstenedione concentration, Decreased circulating de...	OMIM:201750
Choanal Atresia	Polydactyly	ORPHA:137914
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Blepharospasm, Pigmentary retinopathy, Optic disc pallor	OMIM:617282
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Ventricular septal defect	OMIM:611812
Cockayne Syndrome Type 3	Adult onset sensorineural hearing impairment, Intention tremor, Macrotia, Conductive hearing impa...	ORPHA:90324
Xp21 Deletion Syndrome	Recurrent otitis media, Primary adrenal insufficiency, Agenesis of corpus callosum, Finger clinod...	ORPHA:261476
C Syndrome	Ventricular septal defect, Patent ductus arteriosus, Omphalocele	OMIM:211750
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Dysosteosclerosis	Ventricular septal defect, Delayed eruption of teeth	ORPHA:1782
Nephronophthisis 11	Retinal degeneration, Anisocoria	OMIM:613550
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly, Finger aplasia	OMIM:207770
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Broad nasal tip, Wide nasal bridge	OMIM:239300
Congenital Myopathy 13	Conductive hearing impairment, Low-set ears	OMIM:255995
Hardikar Syndrome	Decreased serum insulin-like growth factor 1, Mild hearing impairment, Bladder exstrophy, Patent ...	OMIM:301068
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Short nose	OMIM:219200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Broad nasal tip, Wide nasal bridge	OMIM:614207
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Umbilical hernia	ORPHA:1770
Prolactinoma	Fourth cranial nerve palsy, Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH...	ORPHA:2965
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Epiphyseal stippling, Stippled calcification in carpal bones, Abnormal pelvic girdle ...	OMIM:302960
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Microphthalmia, Corneal opacity, Kyphosis, Death in infancy, Umbilical hern...	ORPHA:534
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Conical tooth, Everted lower lip vermilion, Microdontia, Hypoplasia ...	OMIM:305100
Opsismodysplasia	Short nose, Depressed nasal bridge	ORPHA:2746
Gaucher Disease, Type Ii	Cerebral atrophy, Trismus, Death in infancy, Double aortic arch	OMIM:230900
Acute Adrenal Insufficiency	Delayed puberty, Orthostatic hypotension, Hyperpigmentation of the skin, Vertigo, Stroke, Adrenal...	ORPHA:95409
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Diabetes insipidus, Sensorineural hearing impairment, Type I diabetes mellitus, Ro...	ORPHA:96180
Mucolipidosis Type Ii	Sensorineural hearing impairment, Conductive hearing impairment, Otitis media	ORPHA:576
Aa Amyloidosis	Hypothyroidism, Abnormal heart morphology, Adrenal insufficiency	ORPHA:85445
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Anteverted nares, Spina bifida, Posteriorly rotated ears, Prominent nasal bridge, ...	OMIM:613776
3Mc Syndrome 1	Spina bifida occulta, Omphalocele, Conjunctival telangiectasia, Patent ductus arteriosus, Atrial ...	OMIM:257920
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Ascendi...	ORPHA:141127
Adrenal Hypoplasia, Congenital	Delayed puberty, Hyperpigmentation of the skin, Adrenal hypoplasia, Precocious puberty, Absence o...	OMIM:300200
Bardet-Biedl Syndrome 20	Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly	OMIM:619471
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Ventricular septal defe...	OMIM:235255
Robinow Syndrome, Autosomal Dominant 3	Patent foramen ovale, Pulmonary artery atresia, Tricuspid regurgitation, Omphalocele, Patent duct...	OMIM:616894
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Aymé-Gripp Syndrome	Short nose, Megalocornea, Developmental cataract, Cataract, Depressed nasal bridge	ORPHA:1272
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Vertigo, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insuf...	ORPHA:91347
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Oligodactyly, Ectrodactyly	ORPHA:3016
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Ascending tubular aorta aneurysm, Mitral valve prolapse, Ventricular septal defe...	ORPHA:444072
X-Linked Cerebral Adrenoleukodystrophy	Global brain atrophy, Peripheral axonal neuropathy, Abnormal periventricular white matter morphol...	ORPHA:139396
Trichorhinophalangeal Syndrome, Type Ii	Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the ha...	OMIM:150230
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy	OMIM:208085
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:620024
Native American Myopathy	Conductive hearing impairment	ORPHA:168572
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Conjunctival icterus, Primary hypothyroidism, Sensorineural hear...	OMIM:243800
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Crumpled long bones, Narrow chest, Femoral retroversion, Vertebral compression fractu...	OMIM:610682
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ...	OMIM:145350
Sheehan Syndrome	Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin concentration,...	ORPHA:91355
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Alpha-Thalassemia	Malar prominence, Hyperplasia of the maxilla	ORPHA:846
Adrenomyodystrophy	Generalized hyperpigmentation, Primary adrenal insufficiency, Megalocornea	ORPHA:977
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Focal T2 hyperintense basal ganglia lesion, Sensorineural hearing impairment, Hype...	ORPHA:255210
Retinoblastoma	Retinoblastoma, Retinal calcification, Leukocoria, Vitreous hemorrhage, Vitritis	OMIM:180200
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hypertrophic cardiomyopathy, Congenit...	ORPHA:361
Beckwith-Wiedemann Syndrome	Large placenta, Abnormal earlobe morphology, Adrenocortical carcinoma, Inguinal hernia, Otosclero...	ORPHA:116
Ayme-Gripp Syndrome	Short nose, Developmental cataract, Wide nasal bridge, Depressed nasal bridge	OMIM:601088
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Convex nasal ridge, Short nose, Prominent nasal bridge, Wide nose	ORPHA:251028
Keppen-Lubinsky Syndrome	Abnormally large globe, Narrow nasal bridge, Decreased serum leptin, Scoliosis, Shallow orbits, M...	OMIM:614098
Microlissencephaly-Micromelia Syndrome	Short nose	ORPHA:50810
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:217980
Cystinosis, Nephropathic	Recurrent corneal erosions, Cerebral atrophy, Delayed puberty, Genu valgum, Male hypogonadism, Hy...	OMIM:219800
Joubert Syndrome 39	Postaxial polydactyly, Joint contracture of the 5th finger	OMIM:619562
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Recurrent otitis media, Recurrent viral up...	OMIM:615577
Phosphoribosylpyrophosphate Synthetase Superactivity	Convex nasal ridge, Short nose, Death in childhood, Depressed nasal bridge	OMIM:300661
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Iris atrophy, Ab...	OMIM:259770
Congenital Disorder Of Glycosylation, Type Iie	Short nose, Wide nose, Death in infancy	OMIM:608779
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect, Inguinal hernia	OMIM:616449
Birt-Hogg-Dubé Syndrome	Medullary thyroid carcinoma, Abnormality of retinal pigmentation, Parathyroid adenoma	ORPHA:122
Panhypophysitis	Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin concentration,...	ORPHA:95513
Pfeiffer Syndrome Type 3	Short nose, Choanal atresia, Depressed nasal bridge	ORPHA:93260
Chromosome 14Q11-Q22 Deletion Syndrome	Optic atrophy, Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:613457
Hunter-Macdonald Syndrome	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:611962
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short nose, Astigmatism, Anteverted nares, Broad nasal tip, Optic disc coloboma, Narrow naris, Wi...	OMIM:617157
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
16P13.11 Microdeletion Syndrome	Anteverted nares, Short nose, Depressed nasal bridge	ORPHA:261236
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas...	OMIM:262600
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short nose, Depressed nasal bridge	OMIM:616723
Retinoblastoma	Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero...	ORPHA:790
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Short nose, Anteverted nares, Microcornea, Peripapillary atrophy, Depressed nasal bridge	ORPHA:536467
Keppen-Lubinsky Syndrome	Abnormally large globe, Narrow nasal bridge, Prominent nasal tip, Scoliosis, Shallow orbits, Micr...	ORPHA:435628
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Larsen Syndrome	Hearing impairment, Conductive hearing impairment	OMIM:150250
Adenohypophysitis	Orthostatic hypotension, Reduced circulating prolactin concentration, Sensorineural hearing impai...	ORPHA:95512
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Inguinal hernia, Hypertension, Ve...	OMIM:614947
Mgat2-Cdg	Patent ductus arteriosus, Reflex asystolic syncope, Abnormal heart morphology, Arrhythmia, Ventri...	ORPHA:79329
Hennekam Syndrome	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears	ORPHA:2136
Kyphoscoliotic Ehlers-Danlos Syndrome	Hearing impairment, Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears	ORPHA:536545
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Hearing impairment, Bilateral conductive hearing impairment	ORPHA:488642
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy	OMIM:268100
Turnpenny-Fry Syndrome	Torticollis, Microtia, Low-set ears, Conductive hearing impairment, Satyr ear	OMIM:618371
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Red hair, Decreased growth hormone respons...	OMIM:609734
Bannayan-Riley-Ruvalcaba Syndrome	Anteverted nares, Wide nose, Short nose, Abnormal optic nerve morphology	ORPHA:109
Hajdu-Cheney Syndrome	Large earlobe, Conductive hearing impairment, Low-set ears	OMIM:102500
Aceruloplasminemia	Macular degeneration, Blepharospasm, Abnormality of retinal pigmentation, Abnormal corpus striatu...	ORPHA:48818
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Holoprosencephaly	OMIM:612530
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Optic nerve compression, Narrow chest, Hydrocephalus, Bowing of t...	ORPHA:667
Corpus Callosum Agenesis-Neuronopathy Syndrome	Microcephaly, Aqueductal stenosis, Abnormality of retinal pigmentation, Agenesis of corpus callosum	ORPHA:1496
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Cardiomyopathy, Equinus calcaneus, Left ventricular hypertrophy, Pigmentary r...	ORPHA:746
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Cerebrofaciothoracic Dysplasia	Short nose, Wide nose	ORPHA:1394
Carey-Fineman-Ziter Syndrome	Anteverted nares, Short nose	ORPHA:1358
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Mixed astigmatism, Bone spicule pigmentation of the retina,...	OMIM:617023
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Hereditary Acrokeratotic Poikiloderma	Turricephaly, Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Ke...	ORPHA:2907
Faciocardiorenal Syndrome	Tricuspid valve prolapse, Protruding ear, Wide nasal bridge, Underdeveloped nasal alae, Endocardi...	ORPHA:1973
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
7Q11.23 Microduplication Syndrome	Inguinal hernia, Aortic aneurysm, Hydrocephalus, Aortic valve stenosis, Patent ductus arteriosus,...	ORPHA:96121
Desmosterolosis	Abnormality of the nose, Short nose, Depressed nasal bridge	ORPHA:35107
Adrenoleukodystrophy	Hyperpigmentation of the skin, Hearing impairment, Primary adrenal insufficiency, Abnormal cerebr...	OMIM:300100
Neonatal Marfan Syndrome	Iridodonesis, Ectopia lentis, Wide nasal bridge, Megalocornea	ORPHA:284979
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Ventricular septal defect, Inguinal hernia	ORPHA:1655
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Ventricular septal defect, Peripheral pulmonary artery stenosis, Hematochezia	OMIM:619575
Opsismodysplasia	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:258480
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Inguinal hernia, Pulmonary arterial hypertension, Left superior vena cava d...	ORPHA:464738
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Abnormal anterior chamber morphology, Short nose, Astigmatism, Retinal detachment, Microcornea, S...	OMIM:601776
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Hydrocephalus, Tricuspid regurgitation, Patent ductus arteriosus, Ventr...	ORPHA:261337
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Long nose, Short nose, Anteverted nares, Bulbous nose, Depressed nasal bridge	ORPHA:508533
Diets-Jongmans Syndrome	Umbilical hernia, Ventricular septal defect, Inguinal hernia, Interrupted inferior vena cava with...	OMIM:618846
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Conductive hearing impairment, Macrotia, Calcification of the auricular cartilage	ORPHA:3042
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Short nose	ORPHA:521426
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Coronary sinus enlargement, Persistent left superior vena cava, Atrial sept...	OMIM:619268
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormal periodontium morphology, Tooth malposition, Gingival overgrowth, High palate, Abnormalit...	ORPHA:480880
Short Tarsus With Absence Of Lower Eyelashes	Hypoplasia of the lower eyelids, Absent lower eyelashes	OMIM:600269
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoaldosteronism	OMIM:264350
Cardiac-Valvular Ehlers-Danlos Syndrome	Severe conductive hearing impairment	ORPHA:230851
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus	ORPHA:96191
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Abnormal right ventricle morphology, Spina bifida occulta, Mitral valve prolapse...	ORPHA:500095
Desmosterolosis	Anteverted nares, Short nose, Hypoplastic nasal bridge	OMIM:602398
Autoimmune Polyendocrine Syndrome, Type Ii	Band keratopathy, Keratoconjunctivitis, Hypothyroidism, Primary adrenal insufficiency, Exocrine p...	OMIM:269200
Familial Hypoaldosteronism	Increased circulating renin level, Decreased circulating aldosterone level, Orthostatic hypotensi...	ORPHA:427
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypertrophic cardiomyopathy, Hepatic necrosis, Hyperinsulinemic hypogly...	ORPHA:71212
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:614080
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperpigmentation ...	OMIM:613743
15Q Overgrowth Syndrome	Mixed hearing impairment, Low-set, posteriorly rotated ears, Low-set ears, Posteriorly rotated ea...	ORPHA:314585
Sacral Defect With Anterior Meningocele	Myeloschisis, Anterior sacral meningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Myelom...	OMIM:600145
Esophageal Atresia	Coarctation of aorta, Ventricular septal defect, Tetralogy of Fallot, Omphalocele	ORPHA:1199
Crimean-Congo Hemorrhagic Fever	Myocarditis, Vertigo, Parotitis, Inappropriate antidiuretic hormone secretion, Acute pancreatitis...	ORPHA:99827
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ventricular septal defect, Hematochezia, Omphalocele	OMIM:243150
Addison Disease	Delayed puberty, Hypoparathyroidism, Orthostatic hypotension, Hyperpigmentation of the skin, Vert...	ORPHA:85138
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele	ORPHA:268810
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:620558
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Orthostatic hypotension, Decreased circulating ACTH concentration, Vertigo, A...	ORPHA:199299
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:301040
Autoimmune Polyendocrinopathy Type 2	Hypopigmented skin patches, Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary ad...	ORPHA:3143
Deeah Syndrome	Short nose, Death in childhood, Prominent nasal tip, Death in adolescence, Death in infancy	OMIM:619004
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Absence of secondary sex characteristics, Anterior hypopituitarism, Reduced circ...	ORPHA:2235
Cornelia De Lange Syndrome 6	Ventricular septal defect, Atrioventricular canal defect, Pulmonary artery atresia, Inguinal hernia	OMIM:620568
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Pseu...	OMIM:177735
Ellis Van Creveld Syndrome	Situs inversus totalis, Atrioventricular canal defect, Dextrocardia, Delayed eruption of teeth, A...	ORPHA:289
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation	ORPHA:261250
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Clinodactyly of the 5th finger, Acromesomelia, Pyloric stenosis, Arachnodactyly, Toe...	ORPHA:464306
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Corneal crystals, Abnormal cerebral white matter morphology, A...	ORPHA:411629
Thauvin-Robinet-Faivre Syndrome	Varicose veins, Mitral valve prolapse, Ventricular septal defect, Inguinal hernia	OMIM:617107
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Increas...	ORPHA:90793
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Short nose, Juvenile cataract, Anteverted nares, Depressed nasal tip, Chorioretinal coloboma, Cat...	OMIM:619475
Smith-Mccort Dysplasia 1	Hypoplastic facial bones	OMIM:607326
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short nose, Increased size of nasopharyngeal adenoids, Depressed nasal bridge	ORPHA:457395
Opitz Gbbb Syndrome	Ventricular septal defect, Inguinal hernia, Umbilical hernia	OMIM:300000
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism	OMIM:145260
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Short nose, Wide nasal bridge	ORPHA:2282
Distal Deletion 12Q	Prominent ear helix, Microtia, Bilateral conductive hearing impairment, Low-set ears	ORPHA:96149
Osteopetrosis With Renal Tubular Acidosis	Macrotia, Conductive hearing impairment	ORPHA:2785
Congenital Myopathy 22B, Severe Fetal	Short nose, Wide nasal bridge	OMIM:620369
Omodysplasia 1	Short nose, Popliteal pterygium, Axillary pterygium, Wide nasal bridge, Depressed nasal bridge	OMIM:258315
Semilobar Holoprosencephaly	Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High palate, Cleft ...	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High palate, Cleft ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High palate, Cleft ...	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High palate, Cleft ...	ORPHA:93924
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect, Inguinal hernia	OMIM:178110
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus	ORPHA:464311
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Hydrocephalus, Small earlobe, Absent earlobe, Anteverted nares, Low-se...	OMIM:264090
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Corneal crystals, Retinal pigment epithelial mottling	OMIM:219900
Nicolaides-Baraitser Syndrome	Short nose, Wide nasal base, Narrow nasal bridge, Low hanging columella, Anteverted nares, Bulbou...	OMIM:601358
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Low-set ears, Microcephaly, Cerebral cortical atrophy, Macrotia, Pigmentary retino...	OMIM:277400
Brain-Lung-Thyroid Syndrome	Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal d...	ORPHA:209905
Bardet-Biedl Syndrome	Retrognathia, Long philtrum, Aganglionic megacolon, Abnormal oral cavity morphology, Hypodontia, ...	ORPHA:110
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hypothyroidism, Hypogonadism, Diabetes mellitus, Adrenal insufficiency	ORPHA:231222
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Ventricular septal defect	OMIM:614653
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Global brain atrophy, Hyperpigmentation of the skin, Blepharospasm, Cerebral degen...	OMIM:234200
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Dextrocardia	Hydrocephalus, Abnormal rib morphology, Congenital hip dislocation	ORPHA:1666
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage, Hiatus hernia, Patent ductus arteriosus	OMIM:616682
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Myasthenia Gravis	Hearing impairment, Hashimoto thyroiditis, Primary adrenal insufficiency, Ptosis, Hyperthyroidism...	ORPHA:589
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Turricephaly, Finger syndactyly, Corneal opacity, Abnormal rib morphology, ...	ORPHA:2908
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Pigmentary retinopathy	OMIM:609015
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Short nose, Prominent nasal bridge	ORPHA:1974
Ctcf-Related Neurodevelopmental Disorder	Short nose, Anteverted nares, Microcornea, Broad nasal tip, Short columella	ORPHA:363611
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal left ventricle morphology, Abnormal cardiac ventricular function, Patent foramen ovale, ...	ORPHA:466791
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Anisocoria	ORPHA:90658
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Fontaine Progeroid Syndrome	Low-set ears, Conductive hearing impairment, Posteriorly rotated ears	OMIM:612289
Mosaic Trisomy 20	Craniofacial asymmetry, Abnormal mitral valve morphology, Ventricular septal defect, Dysplastic t...	ORPHA:1724
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Short nose, Prominent nasal bridge	OMIM:227330
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, Prominent nasal tip	ORPHA:522077
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad...	ORPHA:289548
Renal Agenesis	Ventricular septal defect, Hypertension	ORPHA:411709
Trisomy 10P	Abnormality of the nose, Anteverted nares, Short nose, Depressed nasal bridge	ORPHA:171929
Alpha-Mannosidosis, Infantile Form	Sensorineural hearing impairment, Mixed hearing impairment, Otitis media	ORPHA:309282
Schinzel-Giedion Midface Retraction Syndrome	Short nose, Anteverted nares, Choanal stenosis, Abnormal nasopharynx morphology, Depressed nasal ...	OMIM:269150
Chromosome 13Q14 Deletion Syndrome	Inguinal hernia, Patent foramen ovale, Holoprosencephaly, Umbilical hernia, Ventricular septal de...	OMIM:613884
Lysosomal Acid Lipase Deficiency	Xanthelasma, Coronary artery atherosclerosis, Stroke, Bone-marrow foam cells, Precocious atherosc...	ORPHA:275761
Diamond-Blackfan Anemia	Coarctation of aorta, Abnormal heart morphology, Atrial septal defect, Ventricular septal defect,...	ORPHA:124
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Abnormality of the hypothalamus-pituitary axis, Cafe-au-lait spot, Hypothyroidism, Hypogonadism, ...	ORPHA:300298
Wiedemann-Steiner Syndrome	Short nose, Wide nasal bridge	ORPHA:319182
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Abnormal digit morphology, Holoprosencephaly, Median cleft palate	ORPHA:95494
Acrocephalopolydactylous Dysplasia	Short nose	OMIM:200995
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Optic atrophy, Short nose, Broad nasal tip, Bulbous nose, Depressed nasal bridge	OMIM:309590
Cornelia De Lange Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Atresia of the external audi...	ORPHA:199
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis, Spina bifida	OMIM:162200
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad...	ORPHA:168558
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Patent ductus art...	ORPHA:3047
Autosomal Dominant Robinow Syndrome	Short nose, Wide nose, Anteverted nares, Wide nasal bridge, Depressed nasal bridge	ORPHA:3107
Geleophysic Dysplasia 2	Short nose	OMIM:614185
Geleophysic Dysplasia 1	Anteverted nares, Short nose, Wide nasal bridge	OMIM:231050
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Phakomatosis Pigmentokeratotica	Arrhythmia, Raynaud phenomenon, Spina bifida	ORPHA:2874
Cloacal Exstrophy	Bladder exstrophy, Spina bifida, Myelomeningocele, Omphalocele	ORPHA:93929
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect	OMIM:619306
Ring Chromosome 7 Syndrome	Short nose, Anteverted nares, Prominent nasal bridge, Narrow naris, Wide nasal bridge	ORPHA:1449
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Inguinal hernia, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Atrial septal d...	ORPHA:459070
Marden-Walker Syndrome	Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Hydrocephalus, Ven...	ORPHA:2461
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Lumbar Syndrome	Myelomeningocele, Spina bifida, Bladder exstrophy	ORPHA:83628
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short nose, Anteverted nares	ORPHA:280633
Meier-Gorlin Syndrome 7	Heart block, Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal def...	OMIM:617063
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Short nose, Choanal atresia, Narrow nose	OMIM:301044
Sotos Syndrome	Chronic otitis media, Tremor, Hearing impairment, Conductive hearing impairment, Cholesteatoma	ORPHA:821
Smith-Lemli-Opitz Syndrome	Hydrocephalus, Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation, Coarctation o...	OMIM:270400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Short nose, Optic nerve hypoplasia, Prominent nasal tip, Broad nasal tip, Wide nasal bridge	OMIM:620330
Neurooculorenal Syndrome	Sensorineural hearing impairment, Mixed hearing impairment	OMIM:620305
C Syndrome	Anteverted nares, Short nose, Depressed nasal bridge, Death in infancy	ORPHA:1308
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating ACTH level, Increased circulating androstenedione concentration, Premature ...	ORPHA:90794
Liver Disease, Severe Congenital	Left atrial enlargement, Inguinal hernia, Patent foramen ovale, Umbilical hernia, Systolic heart ...	OMIM:619991
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Pseudohypoaldosteronism	OMIM:614492
Exstrophy-Epispadias Complex	Inguinal hernia, Hydrocephalus, Omphalocele, Spina bifida, Abnormal heart morphology, Bladder exs...	ORPHA:322
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Acute Liver Failure	Hepatic periportal necrosis, Hepatocellular necrosis, Hepatic necrosis, Cerebral edema, Intracran...	ORPHA:90062
Carney Triad	Adrenocortical adenoma, Pheochromocytoma, Adrenal overactivity, Paraganglioma	ORPHA:139411
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Omphalocele	ORPHA:436252
Pseudohypoaldosteronism, Type Iib	Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Pseudohypoaldosteronism	OMIM:614495
Pseudohypoaldosteronism, Type Iie	Pseudohypoaldosteronism	OMIM:614496
Kabuki Syndrome 1	Hydrocephalus, Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:147920
Glycerol Kinase Deficiency	Chronic pancreatitis, Adrenocortical hypoplasia, Low-set ears, Adrenal insufficiency	OMIM:307030
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Short nose, Anteverted nares, Broad nasal tip, Bulbous nose, Wide nasal bridge	OMIM:619522
Robinow Syndrome, Autosomal Dominant 1	Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:180700
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Aplasia/Hypoplasia of the radius	ORPHA:2973
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Patent ductus arteriosus	ORPHA:434179
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Unilateral deafness, Meningocele	ORPHA:1010
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Absence of secondary sex characteristics, Increased circulating gonadotropin lev...	ORPHA:251510
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ...	OMIM:201810
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49
Aspartylglucosaminuria	Short nose, Wide nasal bridge	ORPHA:93
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Arima Syndrome	Occipital meningocele	OMIM:243910
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology, Narrow nasal bridge	ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tfap2a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tfap2a.

No publications found that use IMPC mice or data for Tfap2a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tfap2a^{tm213174(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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